Copy number variation in female infertility and candidate gene screening for common infertility-related diseases

Zh. Kozhabek, M. Pang, Q. Zh. Zhao, J.Y. Yi, W.D. Huang

2021

Full text Open access: Hybrid Metadata (CSL-JSON)

DOI 10.31489/2021bmg3/73-79

Data confidence 70 medium

How this score is calculated

It is built from checkable properties of the record itself: whether the article has a DOI, how many independent sources confirmed its data, whether the required fields are filled in, and how recent the latest confirmation is. Disagreement between sources and a missing identifier lower it. A value of 80 or above means the record was published without further checking; 60 to 79 means it is published at reduced confidence, with a manual check advisable. A record verified by an editor by hand is never pushed below 90 by a recalculation. This scores our data about the article, not the article itself.

Abstract

To investigate the correlation between the gene copy number variation and female infertility we collected 3962 female infertility samples and analyzed copy number variation (CNV) using high-throughput sequencing technologies. In this study 269 CNVs were found in 246 samples, 17 of which were new CNVs. The occurrence of CNVs was mostly found in X chromosome, and some candidate genes related to female infertility were screened. We also found some high frequency CNVs, which contain important functional genes. This study filled the blank of CNV research on femaleinfertility and discovered the characteristics of CNV (CNV preference, recurrent CNV), which provided genetic reference for female infertility.