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FertilityOnline: A Straight Pipeline for Functional Gene Annotation and Disease Mutation Discovery

Authors :
Jianing Gao
Huan Zhang
Xiaohua Jiang
Asim Ali
Daren Zhao
Jianqiang Bao
Long Jiang
Furhan Iqbal
Qinghua Shi
Yuanwei Zhang
Source :
Genomics, proteomicsbioinformatics.
Publication Year :
2019

Abstract

Exploring the genetic basis of human infertility is currently under intensive investigation. However, only a handful of genes have been validated in animal models as disease-causing genes in infertile men. Thus, to better understand the genetic basis of human spermatogenesis and bridge the knowledge gap between humans and other animal species, we construct the FertilityOnline, a database integrating the literature-curated functional genes during spermatogenesis into an existing spermatogenic database, SpermatogenesisOnline 1.0. Additional features, including the functional annotation and genetic variants of human genes, are also incorporated into FertilityOnline. By searching this database, users can browse the functional genes involved in spermatogenesis and instantly narrow down the number of candidates of genetic mutations underlying male infertility in a user-friendly web interface. Clinical application of this database was exampled by the identification of novel causative mutations in synaptonemal complex central element protein 1 (SYCE1) and stromal antigen 3 (STAG3) in azoospermic men. In conclusion, FertilityOnline is not only an integrated resource for spermatogenic genes but also a useful tool facilitating the exploration of the genetic basis of male infertility. FertilityOnline can be freely accessed at http://mcg.ustc.edu.cn/bsc/spermgenes2.0/index.html.

Details

ISSN :
22103244
Database :
OpenAIRE
Journal :
Genomics, proteomicsbioinformatics
Accession number :
edsair.doi.dedup.....64d7b9f5641146a31952092e50310a4b