Accession PRJCA002891
Title The molecular basis of male infertility
Relevance Medical
Data types Exome
Organisms Homo sapiens
Description Male infertility extremely affects familial stability and social development; however, little is known about the molecular basis of infertility. The rapid and precise determination of pathogenic mutations for male infertility has always been the pursuit of doctors and scientists, and is also a hotspot and frontier of reproductive biology research. In response to this emerging problem, the applicant carried out a series of work: 1) Participated in the establishment of the human reproductive disease biobank of the University of Science and Technology of China, which is the world's largest collection of testicular tissue of infertile patients (7,695) and sterile families (925); 2) Established the genetic screening platform for male infertility pathogenic mutations identification, which greatly improved the detection rate of candidate pathogenic mutations to 70%; 3) Identified more than 300 candidate pathogenic mutations from patients with spermatogenic disorders and reported the pathogenesis of four mutations.
Sample scope Monoisolate
Release date 2021-12-04
Publication
PubMed ID Article title Journal name DOI Year
34954426 FertilityOnline, A Straight Pipeline for Functional Gene Annotation and Disease Mutation Discovery Genomics, Proteomics & Bioinformatics 10.1016/j.gpb.2021.08.010 2021
Grants
Agency program Grant ID Grant title
National Natural Science Foundation of China (NSFC) General Program 31890780 The molecular basis of spermatogenesis defects caused by meiotic recombination abnomalities
Submitter Yuanwei    Zhang  (zyuanwei@ustc.edu.cn)
Organization University of Science and Technology of China
Submission date 2020-06-20

Project Data

Resource name Description
BioSample (4) -
SAMC1399966 blood sample of NOA patient P3793
SAMC1399962 blood sample of NOA patient P2667
SAMC202573 WES of NOA patient (P3793)
SAMC202572 WES of NOA patient (P2667)