典型文献
Fertility Online:A Straightforward Pipeline for Functional Gene Annotation and Disease Mutation Discovery
文献摘要：
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 data-base integrating the literature-curated functional genes during spermatogenesis into an existing sper-matogenic 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 identifi-cation 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.
文献关键词：
中图分类号：
作者姓名：
Jianing Gao;Huan Zhang;Xiaohua Jiang;Asim Ali;Daren Zhao;Jianqiang Bao;Long Jiang;Furhan Iqbal;Qinghua Shi;Yuanwei Zhang
作者机构：
The First Affiliated Hospital ofUSTC,Hefei National Laboratory for Physical Sciences at the Microscale,CAS Key Laboratory of Innate Immunity and Chronic Diseases,School of Life Sciences,CAS Center for Excellence in Molecular Cell Science,University of Science and Technology of China,Collaborative Innovation Center of Genetics and Development,Hefei 230027,China
文献出处：
引用格式：
[1]Jianing Gao;Huan Zhang;Xiaohua Jiang;Asim Ali;Daren Zhao;Jianqiang Bao;Long Jiang;Furhan Iqbal;Qinghua Shi;Yuanwei Zhang-.Fertility Online:A Straightforward Pipeline for Functional Gene Annotation and Disease Mutation Discovery)[J].基因组蛋白质组与生物信息学报（英文版）,2022(03):455-465
A类：
Straightforward,FertilityOnline,matogenic,SpermatogenesisOnline,exampled,synaptonemal,SYCE1,STAG3
B类：
Pipeline,Functional,Gene,Annotation,Disease,Mutation,Discovery,Exploring,genetic,basis,infertility,currently,intensive,investigation,However,only,handful,have,been,validated,animal,models,disease,causing,infertile,Thus,better,understand,spermatogenesis,bridge,knowledge,gap,between,humans,other,species,construct,integrating,literature,curated,functional,during,into,existing,database,Additional,features,including,annotation,variants,are,also,incorporated,By,searching,this,users,browse,involved,instantly,narrow,down,number,candidates,mutations,underlying,male,friendly,web,interface,Clinical,application,was,by,identifi,novel,causative,complex,central,element,protein,stromal,antigen,azoospermic,In,conclusion,integrated,resource,spermatogenic,but,useful,tool,facilitating,exploration
AB值：
0.544355
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