Applicability of the mutation–selection balance model to population genetics of heterozygous protein-truncating variants in humans
The fate of alleles in the human population is believed to be highly affected by the stochastic
force of genetic drift. Estimation of the strength of natural selection in humans generally …
force of genetic drift. Estimation of the strength of natural selection in humans generally …
Harnessing population-specific protein truncating variants to improve the annotation of loss-of-function alleles
RK Skitchenko, JS Kornienko, EM Maksiutenko… - bioRxiv, 2020 - biorxiv.org
Accurate annotation of putative loss-of-function (pLoF) variants is an important problem in
human genomics and disease, which recently drew substantial attention. Since such …
human genomics and disease, which recently drew substantial attention. Since such …
[图书][B] Post-transcriptional gene expression regulation in developmental disorders
A Kitaygorodsky - 2021 - search.proquest.com
Gene expression regulation is a set of critical biological processes that give rise to the
diversity of cell types across tissues and development stages. Noncoding regions of the …
diversity of cell types across tissues and development stages. Noncoding regions of the …