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

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
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鉴定遗传变异的致病性:背景的影响。
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来源期刊
NPJ Genomic Medicine
NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
9.40
自引率
1.90%
发文量
67
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.
期刊最新文献
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases. Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population. Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand. Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
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