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    <article-meta>
      <title-group>
        <article-title>Knowledge of the Ancestors: Intelligent Ontology-aware Annotation of Biological Literature using Semantic Similarity</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Input Pipelines</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Pratik Devkota Department of Computer Science University of North Carolina at Greensboro</institution>
          ,
          <addr-line>NC 27408 p</addr-line>
          ,
          <country country="US">USA</country>
        </aff>
      </contrib-group>
      <abstract>
        <p />
      </abstract>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>-</title>
      <p>Natural language processing models have
emerged as a solution to manual curation for
fast and automated annotation of literature
with ontology concepts. Deep learning
architectures have particularly been employed for
this task due to increased accuracy over
traditional machine learning techniques. One of
the greatest limitations in prior work is that
the architectures do not use the ontology
hierarchy while training or making predictions.
These models treat ontology concepts as if
they were independent entities while ignoring
the semantics and relationships represented in
the ontology. Here, we present deep learning
architectures for ontology-aware models that
use the ontology hierarchy for training and
predicting ontology concepts for pieces of text.
We explore the choice of three embeddings
CRAFT, GloVe, and ELMo to understand the
impact on prediction performance. We
evaluate our models using F1 and Jaccard semantic
similarity and show that our ontology aware
models can result in 2% - 10% (depending
upon choice of embedding) improvements over
a baseline model that doesn’t use ontology
hierarchies.
1</p>
    </sec>
    <sec id="sec-2">
      <title>Introduction</title>
      <p>Knowledge representation using ontologies has
increased computational access to scientific data by
making it possible to integrate, query, and run large-scale
analyses on biological data. Computational
analyses such as hypothesizing the genetic bases of
evolutionary transitions to predicting gene functions to
understanding rare human diseases are made
possible by the availability of bio-ontology annotations
[MBL+15, GKM+15]. These annotations are often the
result of manual curation of literature - a slow and
tedious process that is unscalable to the rapid pace of
scientific publishing [DDI +15].</p>
      <p>Natural language processing (NLP) methods are
one way to automate the manual curation process in an
attempt to create techniques that can “read” and
annotate biological literature with ontology concepts in
a fast, accurate, and scalable fashion. NLP techniques
for automated ontology curation began with the use
of traditional machine learning methods, rule based
learning, lexical, and syntactic methods [BM18]. With
limited accuracy, the focus has currently shifted to
using deep learning for the task of automated ontology
curation [MBM18, MSM20a].</p>
      <p>Deep learning architectures have gained popularity
in several areas such as image processing, audio
analysis, etc, but especially so for text analysis. In
ontologybased NLP tasks, deep learning models have been
applied to named entity recognition (NER), named
entity normalization (NEN), and relation extraction
[SJC+22, YRSE20, XLS20]. NER focuses on
identifying entities from unstructured text such as scientific
literature while NEN approaches focus on linking the
entities to unique concepts such as terms in an
ontology. Relation extraction tasks focus on identifying
relations between the identified ontology concepts and
enable automated creation of structured hierarchies.
Several deep learning models such as Long Short Term
Memory (LSTM), Gated Recurrent Units (GRU),
Recurrent Neural Networks (RNN), etc. have been
employed for NER and NEN tasks with varying levels of
success. In prior work, we evaluated several existing
deep learning models and developed new architectures
based on Gated Recurrent Units [MBM18, MSM20a].
While the models presented were successful at
performing NER of ontology concepts from text, they
lacked awareness of the underlying ontology hierarchy.
It is critical for ontology-based information retrieval
systems to know the ontology structure and
relationships so that they can make intelligent predictions for
concepts that take into account patterns learned from
the training data as well as semantics embedded in the
ontology.</p>
      <p>The key diference in traditional information
retrieval vs. ontology-based information retrieval is the
possibility of partial success. Traditional information
retrieval systems are evaluated based on whether the
target information is retrieved (success) or not
(failure). In contrast, ontology-based information retrieval
systems are evaluated based on three possibilities:
accurate retrieval (success), inaccurate retrieval (failure),
or partially accurate retrieval (partial success).</p>
      <p>If a model accurately predicts the ontology concept
from the gold standard data, it is counted as success
and is scored a 1. If the model fails to predict any
ontology concept, it is counted as failure and is scored a 0.
If the model retrieves an alternative ontology concept
from the one in the gold standard (partial success),
the model is scored depending on how semantically
similar the retrieved concept is to the true concept.
Intuitively, the most semantically similar concept for
the true concept would lie in the near vicinity (such as
a sibling, or a parent). Thus, it is important for the
model to be aware of the ontology hierarchy to be able
to make intelligent predictions in cases when it misses
the actual concept. The goal of intelligent concept
annotation presented in this study is to maximize
accurate retrieval rates and subsequently maximize
partial accuracy in cases where complete accuracy is not
achieved thereby improving overall accuracy.</p>
      <p>This nuance of ontology-based concept retrieval
means that the first goal of these models is to
predict the true concept. If the first goal is not achieved,
the model should aim to predict the most semantically
similar concept to the truth so as to maximize the
partial accuracy score. The ontology hierarchy contains
valuable information regarding the semantics
embedded in the ontology. This crucial information has been
ignored in past work resulting in ontology recognition
models that are not fully aware of the ontology
semantics. Here, we present intelligent deep learning
architectures that are ontology-aware and use the
hierarchies embedded in the ontology to improve concept
prediction accuracy.</p>
      <p>Gold standard corpora annotated with ontology
concepts are necessary for training and evaluating
natural language processing models. Training deep
learning models particularly requires high quality training
datasets. The Colorado Richly Annotated Full Text
Corpus (CRAFT) [BEE+12] is a widely used training
resource for automated annotation approaches. The
current version of the CRAFT corpus (v4.0.1) provides
annotations for 97 biological/biomedical articles with
concepts from 10 ontologies including the Gene
Ontology (GO).
2</p>
    </sec>
    <sec id="sec-3">
      <title>Related Work</title>
      <p>The majority of work in the areas of natural
language processing techniques for ontology-based
concept recognition is aimed at predicting GO concepts.
This is understandable since the GO is one of the most
widely used bio-ontologies.</p>
      <p>In a previous study [MBM18], we presented a deep
learning architecture that used multiple GRUs with
a character and word based input. The model was
compared to seven models from existing work
using the CRAFT corpus as a gold standard. Results
showed that our GRU-based multi-pipeline model
outperformed prior models such as LSTMs, RNNs, etc.
This work was limited to predicting unigram
annotations and did not take into account the rich semantic
information in ontology hierarchies. Subsequent work
[MSM20a] from our group improved on this by
expanding the types of annotations predicted and by
incorporating semantics from ontology subsumption into the
prediction. Surprisingly, we found that GRU based
models consistently outperformed the commonly used
LSTM based architectures. We developed a
rudimentary approach to incorporate ontology hierarchy into
prediction by generalizing the training data to diferent
levels in the ontology using subsumption reasoning and
running independent models on the diferent datasets.
The approach only resulted in a modest improvement
in performance [MSM20a].</p>
      <p>Most recent publications in this area have separated
the ontology annotation task to two sub-tasks - 1) span
detection: detecting the part of text that corresponds
to an ontology concept, and 2) concept normalization:
identifying the ontology concept most appropriate for
the identified piece of text [BHB +21, HBHH19]. Using
the CRAFT corpus as a training set, the study reports
that Bidirectional encoder representations from
transformers (BERT) resulted in the best performance (0.81
F1) for the span detection sub-task.</p>
      <p>Using similar approaches, [FCR19] compared the
performance of an LSTM model with BERT. This
study divided the ontology annotation task into span
detection and named entity normalization (NEN).
This step enables the models to predict concepts that
might not be seen in the training data. Note that this
system currently cannot handle sophisticated
annotation formats in the CRAFT corpus.</p>
      <p>The application of deep learning architectures such
as RNNs and LSTMs has also been explored for the
task of relationship extraction between ontology
concepts [SLC21]. Sousa et. al. discuss neural network
models to perform text mining tasks on data
structures such as ontologies. Biological annotation tools
such as Textpresso [MKSA04] conduct automatic
curation by automatically extracting ontological entities
and the relations between them. Similarly, other
studies have facilitated relation extraction by creating gold
standard datasets such as BioRel [XLS20]. BioRel is
a large-scale dataset designed specicfially for relation
extraction problems using Unified Medical Language
System as the source. Self attentive networks have also
been found to be promising and have been applied for
identifying drug-drug interactions, protein-protein
interactions, as well as for identifying relations between
medical concepts [YRSE20].
3
3.1</p>
    </sec>
    <sec id="sec-4">
      <title>Methods</title>
      <sec id="sec-4-1">
        <title>Training Dataset</title>
        <p>This study used version v4.0.1 (https://github.
com/UCDenver-ccp/CRAFT/releases/tag/v4.0.1)
of The Colorado Richly Annotated Full Text Corpus
(CRAFT) [BEE+12], a manually annotated corpus
containing 97 articles each of which is annotated
to 10 ontologies. We selected GO annotations from
the CRAFT corpus as our training and testing set
because the largest number of annotations in CRAFT
are made using the GO.
3.2</p>
      </sec>
      <sec id="sec-4-2">
        <title>Data Preprocessing</title>
        <p>The first step is to preprocess each annotation in the
CRAFT into a format that can be used by the deep
learning models. The following preprocessing steps are
performed to translate annotations from the CRAFT
corpus to the desired input formats.
3.2.1</p>
      </sec>
      <sec id="sec-4-3">
        <title>Sentence Segmentation and Tokenization</title>
        <p>Annotations in the CRAFT corpus are recorded via
character index spans that indicate the beginning and
end of an annotation. First, the segmenter splits the
text into sentences by accounting for sentence end
marks (such as periods, exclamation, question marks,
etc.) and then uses a tokenizer to split the sentences
into individual words (or tokens) by accounting for
word boundaries (such as space, hyphen, tab, etc.).
3.2.2</p>
      </sec>
      <sec id="sec-4-4">
        <title>IOB Tagging</title>
        <p>Each extracted word/token is mapped to a GO term or
an out-of-concept annotation. Each token is mapped
to one of the following three categories (T ): 1) GO to
indicate an annotation, ‘O’ for a non-annotation
(outof-concept), and ‘EOS’ to indicate the end of sentence.</p>
        <p>In some cases, a sequence of words/tokens is
annotated to a GO term. In these cases, we use the IOB
(Inside, Outside, Beginning) [RM95] standard. The
IOB format uses three prefixes to tag tokens in a
sentence: 1) ‘B-GO’ is used to specify the beginning of
the annotation, 2) ‘I-GO’ is used to map the tokens
following the beginning of annotation till the end, and
3) ‘O’ is used to map tokens that don’t correspond to
a GO term.
3.2.3</p>
      </sec>
      <sec id="sec-4-5">
        <title>Annotation Formats</title>
        <p>Sentences in the CRAFT corpus are annotated
following a set of annotation formats and guidelines
as detailed in https://github.com/UCDenver-ccp/
CRAFT/tree/master/concept-annotation. Below,
we describe how sentences that contain annotations in
diferent formats are represented in the IOB format.
• No annotations: Some sentences in an article
might not contain any annotations. In this case,
all tokens are represented by ‘O’ tags except the
ending character which is represented by ‘EOS’
tag.
• Disjoint annotations: A sentence might
contain one or more annotations that don’t overlap in
terms of annotation span. In this case, all tokens
not corresponding to an annotation are tagged
with O tags. The end of sentence character is
represented by EOS tag. Tokens that mark the
beginning of an annotation are marked with a
BGO:term followed by I-GO:term to represent
subsequent tokens corresponding to an annotated
phrase.
• Overlapping annotations: Here we show an
example of a sentence containing annotations with
overlapping spans. In this case, a phrase
(sequence of words/tokens) is annotated to a GO
concept, and a word or a sub-phrase within the
original phrase is annotated to a diferent GO
concept.</p>
        <p>Sentence: “Having excluded a direct role in
vesicle formation and membrane fusion, annexin
A7 might act by its property as Ca2+-binding
protein”
Annotations: {‘vesicle’ — GO:0031982; ‘vesicle
formation’ — GO:0006900}
In these instances, we make n copies of the
sentence where n is the number of diferent
annotations. Each copy contains a modified sentence
that represents the text needed to convey one of
the annotations. The above example is
represented as two sentences with each sentence
representing one of the two annotations.</p>
        <p>Sentence 1: “Having excluded a direct role in
vesicle and membrane fusion, annexin A7 might
act by its property as Ca2+-binding protein”
Annotations: {‘vesicle’ — GO:0031982}
Sentence 2: “Having excluded a direct role in
vesicle formation and membrane fusion,
annexin A7 might act by its property as
Ca2+binding protein”</p>
      </sec>
      <sec id="sec-4-6">
        <title>Annotations:</title>
        <p>GO:0006900}
{‘vesicle
formation’
–
If a sentence contains a case of overlapping
annotations and other disjoint annotations
(nonoverlapping annotations), we create sentences
that capture the diferent variations of the
overlapping annotations while keeping the disjoint
annotations common.
• Multiple overlapping annotations: Sentences
can also have more than one phrase with
subannotations. In such a case, where there exist
m phrases with n1, n2, · · · , nm overlapping
subphrases, there will n1 × n2 × ... × nm copies with
all possible combinations of sub-phrase mappings.
Sentence: “Having excluded a direct role in
vesicle formation and membrane fusion, annexin
A7 might act by its property as Ca2+-binding
protein.”
Annotations: {‘vesicle’ — GO:0031982;
‘vesicle formation’ — GO:0006900; ‘membrane’ —
GO:0016020; ’membrane fusion’ — GO:0061025}
In this example, we have two instances of
overlapping annotations with two sub-phrase annotations
each. This sentence would be transformed to four
sentences that each represents a unique
combination of annotations.</p>
        <p>Sentence 1: “Having excluded a direct role in
vesicle and membrane, annexin A7 might act
by its property as Ca2+-binding protein.”
Annotations: {‘vesicle’ — GO:0031982;
‘membrane’ — GO:0016020}
Sentence 2: “Having excluded a direct role in
vesicle formation and membrane, annexin A7
might act by its property as Ca2+-binding
protein.”
Annotations: {‘vesicle formation’
GO:0006900; ‘membrane’ — GO:0016020}
Sentence 3: “Having excluded a direct role in
vesicle and membrane fusion, annexin A7
might act by its property as Ca2+-binding
protein.”
Annotations: {‘vesicle’ — GO:0031982;
’membrane fusion’ — GO:0061025}
Sentence 4: “Having excluded a direct role in
vesicle formation and membrane fusion,
annexin A7 might act by its property as
Ca2+binding protein.”
Annotations: {‘vesicle formation’ —
GO:0006900; ‘membrane fusion’ — GO:0061025}
—
• Discontinuous annotations: Some sentences in
the CRAFT corpus contain discontinuous
annotations where non-consecutive words/tokens are
annotated to a single concept, while tokens between
them are not.</p>
        <p>Sentence: “Because the F7 is the most severely
afected allele, it is possible that the diference
between the heart and kidney levels is due to a
developmental delay in v/p formation.”
Annotations: “v formation” — GO:0097084
Here we see “v formation” is annotated to
GO:0097084, whereas “/p” is not. In such a case
we represent the sentence by removing the
tokens/words which were not annotated (“/p”). This
is done to represent the continuous span of the
phrase to GO term mapping.</p>
      </sec>
      <sec id="sec-4-7">
        <title>Transformed Sentence: “Because the F7 is the</title>
        <p>most severely afected allele, it is possible that the
diference between the heart and kidney levels is
due to a developmental delay in v formation.”
3.2.4</p>
      </sec>
      <sec id="sec-4-8">
        <title>POS Tagging and Token Encoding</title>
        <p>Following the tokenization and IOB tagging, we enrich
training data with parts-of-speech (POS) information
and a compressed character representation. POS
tagging looks at the contextual information of the word
based on the words surrounding it in a sentence or
a phrase. Here, we tag each token with 15 parts of
speech tags — adjective, adposition (such as - in, to,
during), adverb, auxiliary (such as - is, has done, will
do, should do), conjunction, coordinating conjunction,
determiner, interjection, noun, numeral, particle,
pronoun, proper noun, punctuation, subordinating
conjunction, symbol, verb, other, space.</p>
        <p>While the POS tagging looks at the word level
representation of the context, we also represent
character level nuances of a token using character
encodings. These encodings represent upper-case and lower
case characters with ‘C’ or ‘c’ respectively. Numbers
are represented using an ‘N’ and punctuation (such
as commas, periods, and dashes) are retained in the
encoding.
3.3</p>
      </sec>
      <sec id="sec-4-9">
        <title>Deep Learning Architecture</title>
        <p>After all the preprocessing steps described above are
complete, we develop multidimensional vectors for
each sentence of the articles. Our deep learning
architecture (Figure 1) consists of three key components
— 1) input pipelines; 2) embedding/latent
representations; and 3) a deep learning model.
The neural architectures in this study are designed to
use fixed size inputs. We explored the frequency
distribution of words in the CRAFT dataset to determine
the size required for the architectures (71 is 3-SD).
Each sentence was transformed to a size of 71 words
based on the third standard deviation of the word
frequency distribution. Sentences with lower number of
words are padded with the token &lt;PAD&gt; and ones with
higher number of tokens are truncated to a length of
71.</p>
        <p>We provide three inputs for each word in a sentence
- 1) token (Xttroakienn), 2) character sequence (Xtcrhaairn), 3)
parts-of-speech (XtPraOiSn).</p>
        <p>The token (Xttroakienn) input, is a sequential tensor
consisting of 71 tokens, where each token is
represented with a high dimensional one hot encoded
vector (for 34,164 unique words/tokens present within our
corpus vocabulary). Similarly, the character sequence
(Xtcrhaairn) is also a sequential tensor consisting of
character sequences present in a word/token. Next we
provide POS tags that indicate the type of words in a
sentence (XtPraOiSn).
3.3.2</p>
      </sec>
      <sec id="sec-4-10">
        <title>Embedding/Latent Representations</title>
        <p>Our architecture utilizes embeddings to provide a
compressed latent space representation for very high
dimensional input components. For example, the one
hot vectorization of an individual word has a
dimensionality of 34,166. In order to represent them
succinctly and with contextual representation, we
evaluated three diferent approaches for embeddings (shown
as Emb. in Figure 1) - 1) CRAFT 2) Global
Vectors for Word Representation(GloVe) , 3) Embeddings
from Language Models (ELMo).</p>
        <p>The supervised embedding is a bottleneck layer
which learns to map the one hot encoded input into
a smaller dimensional representation. The resulting
embedding learns the mapping of the IOB tags to the
tokens of the sentences. The layer is used with
token inputs (Xttroakienn), character sequences (Xtcrhaairn), and
character representation (XtPraOiSn), each of which have
very high dimensionality in their original vectors.</p>
        <p>We also evaluate GloVe [PSM14] and ELMo
[PNI+18] pretrained embeddings for the Xttroakienn
input. GloVe uses word co-occurrence statistics to learn
the embeddings. In comparison, the embeddings in
ELMo are learned via a bidirectional language model
where the sequence of the words are also taken into
account. While ELMo and GloVe are large pretrained
(on external corpus) embedding models, we also
evaluate the models performance using the CRAFT
embedding. Here we use a embedding layer which is
cotrained during the model training, where each word is
mapped to an embedding vector which is a continuous
vector of 100 dimensions. Initially the embedding
values of the layer are randomly initialized, but are then
optimized for word lookup during the model training
for the objective of ontology annotation.</p>
      </sec>
      <sec id="sec-4-11">
        <title>3.3.3 Deep learning model</title>
        <p>Our architecture utilizes a bi-directional gated
recurrent model (Bi-GRU). Traditional Recurrent Neural
Networks sufer from short term memory that isn’t
ideal when training using long sentences. In long
sequences of words, these models will forget patterns
from the beginning of the sentence as they move
further into the sentence. The gradients computed during
back propagation gradually shrink causing small
gradients from earlier parts of the inputs that don’t
contribute to learning. This problem known as the
vanishing gradient problem makes it inefective for RNNs
to learn from long pieces of text.</p>
        <p>Gated Recurrent Units [CVMG+14] employ two
gates a reset gate and an update gate to address the
vanishing gradient problem. The reset gate handles
short term memory while the update gate handles long
term memory. The reset gate allows the user to
specify how much of the prior states to remember. The
combination of these two gates enables GRUs to
retain information longer without diluting their impact
to learning.</p>
        <p>The choice of GRUs for our architecture is not
arbitrary. We conducted an evaluation of RNNS, LSTMs,
and GRUs in prior work [MSM20b, MBM18], and
found that the GRU based architecture performed the
best.</p>
        <p>Figure 1 shows a snapshot of the model architecture
in the context of training and inference of a sample set
of tokens. Here we show the training/inference on a
sequence of tokens “vesicle”, “formation”, and “in”
(which are parts of a sentence) as it is evaluated by
the network. Each token is preprocessed to obtain the
representative tensors – Xttroakienn, Xtcrhaairn, XtPraOiSn which
are passed through embedding layers, where the
embedding of Xttroakienn can be a complete pretrained
architecture such as GloVe or ELMo. The embedding
of Xtcrhaairn is also passed via a Bi-directional GRU
(BiGRU) layer. All of the resulting values are
concatenated to be processed via the main Bi-GRU layer.
The bi-directionality allows the architecture to learn
the preceding and succeeding sequence patterns within
the sequence tokens in a sentence. The states of both
the GRU layers are then concatenated to provided to
the final dense layer, which is the softmax classifier of
the architecture, and predicts the associated IOB tags
for the input tokens. Here we select the tag with the
highest probability for each of the tokens.</p>
        <p>Architecture hyper-parameters, which include
supervised embedding shape ({20, 50, 100, 150, 200}),
dropout ({01, .2, .3, .5, .7}), number of epochs ({50,
100, 200, 300}), and class weighting, were evaluated
using a grid search approach. We used Adam [KB17]
as our optimiser for all of the experiments with a
default learning rate of 0.0001.</p>
        <p>We also compare our approach to large scale masked
language models such as BERT. Bidirectional Encoder
Representations from Transformers (BERT) [DCLT18]
is a popular attention model developed by Google.
BERT has rapidly become the state of the art in
several applications, especially those involving text
processing. We compared the best model from our
experiments above with BERT.
3.4</p>
      </sec>
      <sec id="sec-4-12">
        <title>Target Vector Representation</title>
        <p>Target labels to be predicted are typically provided as
a one-hot encoded vector where the size of the vector
equals the number of output labels. In our case, the
output labels correspond to the set of all GO terms.
Typically, the value of the GO term to be predicted is
set to a 1 and the value of all other GO terms is set
to 0. This approach of representing the target labels,
however, does not allow the model to learn the
ontology hierarchy nor does it allow for semantically similar
partial predictions.</p>
        <p>In this study, we use Jaccard semantic similarity
scores as values in the label vector. The value of the
GO term to be predicted is set to 1 and the value of
all other GO terms in the vector is set to the Jaccard
similarity score between that term and the GO term
to be predicted. This representation allows the model
to identify the target GO term followed by “similar”
GO terms that are partially accurate predictions. This
output label representation also helps the model
optimize the weights to target more than one prediction
label. We also add in a weighting factor β to
modulate the efect of Jaccard similarity score on the target
vector. So for each output tag, the representation is
as follows:</p>
        <p>l = [β ∗ J sim(T , Tb )], if T ̸= Tb &amp; T ̸= O
where, Y is the final target vector, l is the label
for the word, T is the ground truth tag, Tb is the
predicted tag, β is the Jaccard weight, and Jsim is the
Jaccard similarity between T and Tb . The target
vector Y is computed by comparing the true tag (T ) with
the possible tags (Tb ), where if the T == Tb == O (no
annotation) OR a GO annotation then the value is set
to 1. Else, if the ground truth tag (T ) is a GO term,
then we calculate its Jaccard similarity to all possible
Y =
(l = [1],
if T == Tb
(1)
GO terms and create the target vector by weighting
it with β . We evaluate β values between {0, .25, .5,
1}, where a β value 0 indicates the traditional
onehot vectorization (baseline in results) and a β value 1
indicates the full Jaccard score taken into account.</p>
        <p>The Jaccard similarity (Jsim) of the ground truth
concept T and a predicted concept Tb [PFF+09] is
calculated as:</p>
        <p>where, S(T ) is the set of ontology subsumers of T .
Specifically, Jsim of two concepts (A, B) in an
ontology is defined as the ratio of the number of concepts in
the intersection of their subsumers over the number of
concepts in their union of their subsumers [PFF+09].
3.5</p>
      </sec>
      <sec id="sec-4-13">
        <title>Performance Evaluation Metrics</title>
        <p>The performance of each experiment is evaluated using
a modified F1 score. The model is tasked with
predicting non-annotations (indicated by an ‘O’ tag) or
annotations (indicated by a ‘GO’ tag). Since the majority
of tags in the training corpus are non-annotations, the
model predicts them with great accuracy. In order
to avoid biasing the F1 score, we omit accurate
predictions of ‘O’ tags from the calculation to report a
relatively conservative F1 score.</p>
        <p>F1 quantifies whether the model’s prediction
matches the actual annotation exactly. However,
ontology-based prediction systems need to be
evaluated while accommodating partially accurate
predictions. For example, a model might not retrieve the
exact ontology concept as the gold standard but a
related concept (sub-class or super-class) achieving
partial accuracy. Semantic similarity metrics [PFF+09]
designed to measure diferent degrees of similarity
between ontology concepts can be leveraged to measure
the similarity between the predicted concept and the
actual annotation to quantify the partial prediction
accuracy. Here, we use Jaccard similarity which
measures the ontological distance between two concepts,
to access the models performance for partial
similarity between the predicted tags and the actual ground
truth.
3.6</p>
      </sec>
      <sec id="sec-4-14">
        <title>Top two predictions</title>
        <p>The model makes predictions for each GO instance
in the test set. These predictions are expressed as
a probability vector where each potential GO term
is assigned a probability. When evaluating the
performance of the model, we typically pick the GO
term with the highest probability and use that as the
Jsim(T , Tb ) = |S(T ) ∩ S(Tb )|
|S(T ) ∪ S(Tb )|
(2)
4</p>
        <p>Results and Discussion
model’s prediction. However, it is typical in NLP
evaluations to consider the top 2, 5, and even 10% of
probabilities in evaluating the performance of the model
[BHA+21, JK19, PSY+18]. In one of our prior works,
we showed that using the top 2 probabilities can result
in a substantial increase in accuracy [MSM20a]. Here,
we use the same practice of considering predictions
with the top 2 probabilities to evaluate our model’s
performance.</p>
        <p>The CRAFT v4.0.1 dataset contains 18,689
annotations pertaining to 974 concepts from the three GO
sub-ontologies across 97 articles. The majority of
these concepts belong to Biological Process followed
by Molecular Function, and Cellular Component.</p>
        <p>First, we look at a comparison of the three
embeddings tested - CRAFT, GloVe, and ELMo. We
establish a baseline performance by training the model
with a binary target vector and not using Jaccard
similarity scores. This baseline can help understand the
performance improvements resulting from training the
model with semantic similarity scores. Row 1 of Table
2 shows the baseline F1 and Jaccard similarity with the
three embeddings. We see that ELMo results in the
highest F1 (0.79) and the highest Jaccard score (0.82).
Considering the top 2 predictions increased the F1 to
0.86 and the Jaccard score to 0.90.</p>
        <p>We tested the prediction performance with four
different settings of the weight parameter β (0.25, 0.5,
0.75, and 1). We found that the best performance was
obtained with a weight of 0.5 (Row 2, Table 2). In
both the baseline and the ontology aware model, the
ELMo embedding outperforms the other two
embeddings across all metrics.</p>
        <p>The impact of training the model with the ontology
hierarchy is starkly noticeable in both F1 and
Jaccard across all three embeddings. The highest
improvement is observed for CRAFT embeddings (8%
F1, 10% Jaccard) followed by GloVe (6% F1, 8%
Jaccard). ELMo showed modest improvements between
the baseline and the ontology aware model (2% F1 and
Jaccard). These results suggest that intelligent
models that are trained with the ontology hierarchy make
more accurate predictions as compared to those that
are trained just on the target ontology concept.</p>
        <p>We present a few examples of instances where the
model’s predictions match the ontology term in the
gold standard as well as instances where the model
generates false negatives or partially accurate
annotations (Table 1).</p>
        <p>We also compare the transformer based BERT
model which has been shown to perform state of art
results in a large of named entity recognition and other
Phrase
endogenous intracellular
cell divisions before developmental
proper rhabdomere morphogenesis</p>
        <p>auto regulation of blood flow
polysomal -associated RNA-binding protein
protein degradation</p>
        <sec id="sec-4-14-1">
          <title>Gold standard annotation</title>
        </sec>
      </sec>
      <sec id="sec-4-15">
        <title>Accurate annotation prediction</title>
        <p>GO:0005622
GO:0051301</p>
      </sec>
      <sec id="sec-4-16">
        <title>Partially accurate annotation prediction</title>
        <p>GO:0061541
GO:1903522</p>
      </sec>
      <sec id="sec-4-17">
        <title>Inaccurate annotation prediction</title>
        <p>GO:0005844
GO:0030163</p>
        <p>It is interesting to see that a generic ELMo
embedding performs better than a domain specicfi
embedding such as CRAFT. However, it is to be noted
that the ELMo and GloVe embeddings are pretrained
on large corpora. They are computationally more
expensive to inference during model training and even
more expensive to develop. In contrast, CRAFT
utilizes a simple embedding layer with significantly lower
number of parameters making it more accessible for
scientists.</p>
        <p>Prior approaches in the area of automated ontology
annotation treated ontological concepts as a binary
outcome. In our approach, the Jaccard similarity
target vector teaches the model to understand the latent
semantic relationships between the GO concepts.
5</p>
      </sec>
    </sec>
    <sec id="sec-5">
      <title>Conclusion</title>
      <p>This work introduced approaches for incorporating
the ontology hierarchy to make more accurate
concept predictions for text. We show that our intelligent
ontology-aware model results in higher annotation
accuracy over a naive baseline model. This work paves
the way for more sophisticated approaches for enabling
deep learning architectures to gain understanding of
the ontology space and semantics.
6</p>
    </sec>
    <sec id="sec-6">
      <title>Data and Code Availability</title>
      <p>The data used in this work is publicly
available at https://github.com/UCDenver-ccp/CRAFT/
releases/tag/v4.0.1. The code used to generate
the results can be found at https://github.com/
prashanti/intelligentannotation. The code is
archived on Zenodo (doi: 10.5281/zenodo.6964353).
[BEE+12]</p>
      <sec id="sec-6-1">
        <title>Michael Bada, Miriam Eckert, Donald</title>
        <p>Evans, Kristin Garcia, Krista Shipley,
Dmitry Sitnikov, William A.
Baumgartner, K. Bretonnel Cohen, Karin
Verspoor, Judith A. Blake, and Lawrence E.
Hunter.
https://doi.org/10.1186/14712105-13-161Concept annotation in the
CRAFT corpus. BMC Bioinformatics,
13(1):161, Jul 2012.
[BHA+21]
[BHB+21]</p>
      </sec>
      <sec id="sec-6-2">
        <title>Rishi Bommasani, Drew A Hudson,</title>
        <p>Ehsan Adeli, Russ Altman, Simran
Arora, Sydney von Arx, Michael S
Bernstein, Jeannette Bohg, Antoine Bosselut,
Emma Brunskill, et al. On the
opportunities and risks of foundation models.
arXiv preprint arXiv:2108.07258, 2021.</p>
      </sec>
      <sec id="sec-6-3">
        <title>Mayla R Boguslav, Negacy D Hailu,</title>
        <p>Michael Bada, William A Baumgartner,
and Lawrence E Hunter. Concept
recognition as a machine translation problem.
BMC bioinformatics, 22(1):1–39, 2021.</p>
      </sec>
      <sec id="sec-6-4">
        <title>Lucas Beasley and Prashanti Manda.</title>
        <p>Comparison of natural language
processing tools for automatic gene ontology
annotation of scientific literature.
Proceedings of the International Conference on</p>
        <p>Biomedical Ontology, 2018.
[CVMG+14] Kyunghyun Cho, Bart Van Merrein¨boer,
Caglar Gulcehre, Dzmitry Bahdanau,
Fethi Bougares, Holger Schwenk, and
Yoshua Bengio. Learning phrase
representations using rnn encoder-decoder
for statistical machine translation. arXiv
preprint arXiv:1406.1078, 2014.</p>
      </sec>
      <sec id="sec-6-5">
        <title>Catia Pesquita, Daniel Faria, Andre O</title>
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Couto. Semantic similarity in biomedical
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[PSM14]
[RM95]
[SJC+22]
[SLC21]
[XLS20]
[YRSE20]</p>
      </sec>
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