Genomic technologies identify milder presentations of Mendelian disease

IF 3.7 2区生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY

European Journal of Human Genetics Pub Date : 2024-09-02 DOI:10.1038/s41431-024-01682-z

Alisdair McNeill

引用次数: 0

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基因组技术发现孟德尔疾病的较轻表现形式

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

European Journal of Human Genetics 生物-生化与分子生物学

CiteScore

9.90

自引率

5.80%

发文量

216

审稿时长

2 months

期刊介绍： The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics