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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 J+Biomed+Semantics
2017 ; 8
(1
): 14
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
SNPPhenA: a corpus for extracting ranked associations of single-nucleotide
polymorphisms and phenotypes from literature
#MMPMID28388928
Bokharaeian B
; Diaz A
; Taghizadeh N
; Chitsaz H
; Chavoshinejad R
J Biomed Semantics
2017[Apr]; 8
(1
): 14
PMID28388928
show ga
BACKGROUND: Single Nucleotide Polymorphisms (SNPs) are among the most important
types of genetic variations influencing common diseases and phenotypes. Recently,
some corpora and methods have been developed with the purpose of extracting
mutations and diseases from texts. However, there is no available corpus, for
extracting associations from texts, that is annotated with linguistic-based
negation, modality markers, neutral candidates, and confidence level of
associations. METHOD: In this research, different steps were presented so as to
produce the SNPPhenA corpus. They include automatic Named Entity Recognition
(NER) followed by the manual annotation of SNP and phenotype names, annotation of
the SNP-phenotype associations and their level of confidence, as well as modality
markers. Moreover, the produced corpus was annotated with negation scopes and
cues as well as neutral candidates that play crucial role as far as negation and
the modality phenomenon in relation to extraction tasks. RESULT: The agreement
between annotators was measured by Cohen's Kappa coefficient where the resulting
scores indicated the reliability of the corpus. The Kappa score was 0.79 for
annotating the associations and 0.80 for the confidence degree of associations.
Further presented were the basic statistics of the annotated features of the
corpus in addition to the results of our first experiments related to the
extraction of ranked SNP-Phenotype associations. The prepared guideline documents
render the corpus more convenient and facile to use. The corpus, guidelines and
inter-annotator agreement analysis are available on the website of the corpus:
http://nil.fdi.ucm.es/?q=node/639 . CONCLUSION: Specifying the confidence degree
of SNP-phenotype associations from articles helps identify the strength of
associations that could in turn assist genomics scientists in determining
phenotypic plasticity and the importance of environmental factors. What is more,
our first experiments with the corpus show that linguistic-based confidence
alongside other non-linguistic features can be utilized in order to estimate the
strength of the observed SNP-phenotype associations. TRIAL REGISTRATION: Not
Applicable.
|*Gene Ontology
[MESH]
|*Phenotype
[MESH]
|*Polymorphism, Single Nucleotide
[MESH]
|Information Storage and Retrieval/*methods
[MESH]