In:
Science, American Association for the Advancement of Science (AAAS), Vol. 376, No. 6589 ( 2022-04-08), p. 134-135
Abstract:
Using high-throughput genotyping platforms to identify single-nucleotide polymorphisms (SNPs) has allowed genome-wide association studies (GWASs) to generate an unbiased classification of human diseases that are associated with common genetic variation. There are many common allelic variants in noncoding regions that have small effect sizes with complex interactions that are highly cell type and cell state dependent. Moreover, progress toward understanding disease mechanisms has been limited by the challenges of assigning molecular function to most GWAS “hits” that are noncoding sequences associated with disease. On pages 154 and 153 of this issue, Yazar et al. ( 1 ) and Perez et al. ( 2 ), respectively, use multiplexed single-cell RNA sequencing (scRNA-seq) with fine mapping of autoimmune disease–associated genetic variants to provide a resource that allows the large-scale identification of genotype-phenotype interactions. Notably, these two studies provide a comprehensive catalog of immune cell profiles that opens the door to a new era of functional genetics.
Type of Medium:
Online Resource
ISSN:
0036-8075
,
1095-9203
DOI:
10.1126/science.abq0426
Language:
English
Publisher:
American Association for the Advancement of Science (AAAS)
Publication Date:
2022
detail.hit.zdb_id:
128410-1
detail.hit.zdb_id:
2066996-3
detail.hit.zdb_id:
2060783-0
SSG:
11
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