Mendelian gene identification through mouse embryo viability screening.

ABSTRACT:

Background

The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is particularly challenging and strategies combining gene functional evidence with approaches that evaluate the phenotypic similarities between patients and model organisms have proven successful. A full spectrum of intolerance to loss-of-function variation has been previously described, providing evidence that gene essentiality should not be considered as a simple and fixed binary property.

Methods

Here we further dissected this spectrum by assessing the embryonic stage at which homozygous loss-of-function results in lethality in mice from t

SUBMITTER: Cacheiro P 

PROVIDER: S-EPMC9563108 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature