Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.

ABSTRACT: Detailed characterization of chromosomal abnormalities, a common cause for congenital abnormalities and pregnancy loss, is critical for elucidating genes for human fetal development. Here, 2,186 product-of-conception samples were tested for copy-number variations (CNVs) at two clinical diagnostic centers using whole-genome sequencing and high-resolution chromosomal microarray analysis. We developed a new gene discovery approach to predict potential developmental genes and identified 275 candidate genes from CNVs detected from both datasets. Based on Mouse Genome Informatics (MGI) and Zebrafish model organism database (ZFIN), 75% of identified genes could lead to developmental defects when mutated. Genes involved in embryonic development, gene transcription, and regulation of biological pro

SUBMITTER: Chen Y 

PROVIDER: S-EPMC5671119 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature