NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

ABSTRACT:

Background

To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).

Methods

After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Pathogenic and likely pathogenic variants were subjected to thorough literature-based curation in addition to the regular filters. Variants of unknown significance were not reported. Individuals were counselled explaining the implications of the results, and cascade screening was advised when necessary.

Results

Of the 200 participants, 52 (26%) were found to be carri

SUBMITTER: Singh K 

PROVIDER: S-EPMC7607710 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature