Causal Genetic Variants in Stillbirth.

ABSTRACT:

Background

In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to chromosomal abnormalities. However, the causal nature of single-nucleotide variants and small insertions and deletions in exomes has been understudied.

Methods

We generated exome sequencing data for 246 stillborn cases and followed established guidelines to identify causal variants in disease-associated genes. These genes included those that have been associated with stillbirth and strong candidate genes. We also evaluated the contribution of 18,653 genes in case-control analyses stratified according to the degree of depletion of functional variation (described here as "intolerance" to varia

SUBMITTER: Stanley KE 

PROVIDER: S-EPMC7604888 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature