In recent years, exome sequencing (ES) has shown great utility in the diagnoses of Mendelian disorders. However, after rigorous filtering, a typical ES analysis still involves the interpretation of hundreds of variants, which greatly hinders the rapid identification of causative genes. Since the int...
11月14日,上海交通大学医学院临床研究中心副研究员马诗洋在国际人类遗传学顶刊之一的The American Journal of Human Genetics在线发表了题目为“Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating”的研究论文,创新性提出LAVA-Knock这一局部遗传相关性分析方法,有效降低...
期刊名称:《The American Journal of Human Genetics》 | 2021年第3期 3.'Choice of law' in precision medicine research 机译:精准医学研究中的“法律选择” 作者:Beskow Laura M.;Wolf Leslie E. 期刊名称:《The American Journal of Human Genetics》 | 2022年第8期 关键词: GENOMIC RESEARCH; INFO...
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Volume 1, Number 1 of The American Journal of Human Genetics was published in September 1949. The first paper was an 18-page preface to the journal by H. J. Muller, president of The American Society of Human Genetics, entitled "Progress ... AG Motulsky,DE Comings,CJ Epstein,... - 《...
The American Journal of Human Genetics Supports open access Biophysical Journal Supports open access Cancer Cell Supports open access Cell Supports open access Cell Reports Open access 13.8CiteScore 7.5Impact Factor Chemistry & Biology Cell Host & Microbe Supports open access Cell Metabolism Sup...
摘要: The article presents the editorial board of the May 2014 issue of "The Egyptian Journal of Medical Human Genetics" including Rabah M. Shawky as editor-in-chief, Mohamed S. Elkholy as one of the associate editors, and Alyaa Kotby as member of the editorial board....
Journal of Human Genetics volume 67, pages 363–368 (2022)Cite this article 3019 Accesses 10 Altmetric Metrics details Abstract Structural analysis of small supernumerary marker chromosomes (sSMCs) has revealed that many have complex structures. Structural analysis of sSMCs by whole genome sequencing ...
Journal of Human Genetics volume 53, pages 101–105 (2008)Cite this article 834 Accesses Metrics details Abstract Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. To date, 67 autosomal recessive nonsyndromic hearing impairment (ARNSHI) loci have been mapped, and 24 genes ...
AI(Milano) apoprotein identification of the complete kindred and evidence of a dominant genetic transmission The American Journal of Human Genetics . 1985Gualandri V, Franceschini G, Sirtori CR, et al. AI Milano apoprotein identification of the complete kindred and evidence of a dominant genetic ...