Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants.

ABSTRACT:

Purpose

Miscarriage, often resulting from a variety of genetic factors, is a common pregnancy outcome. Preconception genetic carrier screening (PGCS) identifies at-risk partners for newborn genetic disorders; however, PGCS panels currently lack miscarriage-related genes. In this study, we evaluated the potential impact of both known and candidate genes on prenatal lethality and the effectiveness of PGCS in diverse populations.

Methods

We analyzed 125,748 human exome sequences and mouse and human gene function databases. Our goals were to identify genes crucial for human fetal survival (lethal genes), to find variants not present in a homozygous state in healthy humans, and to estimate carrier rates of known and candidate lethal genes in various populations and ethnic groups.

SUBMITTER: Aminbeidokhti M 

PROVIDER: S-EPMC10881709 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature