In:
Annual Review of Genetics, Annual Reviews, Vol. 56, No. 1 ( 2022-11-30), p. 441-465
Abstract:
Scalable sequence–function studies have enabled the systematic analysis and cataloging of hundreds of thousands of coding and noncoding genetic variants in the human genome. This has improved clinical variant interpretation and provided insights into the molecular, biophysical, and cellular effects of genetic variants at an astonishing scale and resolution across the spectrum of allele frequencies. In this review, we explore current applications and prospects for the field and outline the principles underlying scalable functional assay design, with a focus on the study of single-nucleotide coding and noncoding variants.
Type of Medium:
Online Resource
ISSN:
0066-4197
,
1545-2948
DOI:
10.1146/genet.2022.56.issue-1
DOI:
10.1146/annurev-genet-072920-032107
Language:
English
Publisher:
Annual Reviews
Publication Date:
2022
detail.hit.zdb_id:
1470448-1
SSG:
12
