用于解释人类遗传变异的可扩展功能测试。

IF 8.7 1区生物学 Q1 GENETICS & HEREDITY

Annual review of genetics Pub Date : 2022-11-30 Epub Date: 2022-09-02 DOI:10.1146/annurev-genet-072920-032107

Daniel Tabet, Victoria Parikh, Prashant Mali, Frederick P Roth, Melina Claussnitzer

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引用次数: 0

摘要

通过可扩展的序列功能研究，可以对人类基因组中成千上万的编码和非编码基因变异进行系统分析和编目。这改善了对临床变异的解释，并以惊人的规模和分辨率洞察了基因变异在分子、生物物理和细胞方面对等位基因频率的影响。在这篇综述中，我们将探讨该领域的当前应用和前景，并概述可扩展功能检测设计的基本原则，重点关注单核苷酸编码和非编码变异的研究。

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Scalable Functional Assays for the Interpretation of Human Genetic Variation.

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.

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来源期刊

Annual review of genetics 生物-遗传学

CiteScore

18.30

自引率

0.90%

发文量

期刊介绍： The Annual Review of Genetics, published since 1967, comprehensively covers significant advancements in genetics. It encompasses various areas such as biochemical, behavioral, cell, and developmental genetics, evolutionary and population genetics, chromosome structure and transmission, gene function and expression, mutation and repair, genomics, immunogenetics, and other topics related to the genetics of viruses, bacteria, fungi, plants, animals, and humans.