鉴定遗传变异的致病性：背景的影响。

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2024-01-09 DOI:10.1038/s41525-023-00386-5

Timothy H Ciesielski, Giorgio Sirugo, Sudha K Iyengar, Scott M Williams

引用次数: 0

摘要

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Characterizing the pathogenicity of genetic variants: the consequences of context.

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Characterizing the pathogenicity of genetic variants: the consequences of context.

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.