A brief history of human disease genetics-Reference-Cited by-同舟云学术

A brief history of human disease genetics

Published:2020-01-08 Issue:7789 Volume:577 Page:179-189
ISSN:0028-0836
Container-title:Nature
language:en
Short-container-title:Nature

Author:

Claussnitzer Melina,Cho Judy H.,Collins Rory,Cox Nancy J.,Dermitzakis Emmanouil T.,Hurles Matthew E.,Kathiresan Sekar,Kenny Eimear E.,Lindgren Cecilia M.,MacArthur Daniel G.,North Kathryn N.,Plon Sharon E.,Rehm Heidi L.,Risch Neil,Rotimi Charles N.,Shendure Jay,Soranzo Nicole,McCarthy Mark I.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41586-019-1879-7.pdf

Reference173 articles.

1. International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001). This paper describes the first analyses from the draft human genome sequence assembled over the previous decade: it launched modern human genetics and represents a tribute to the power of collaborative science.

2. International HapMap Consortium. The International HapMap Project. Nature 426, 789–796 (2003). The HapMap Consortium developed the first genome-wide maps of common sequence variation, using this information to lay out the haplotypic structure of this variation across three major ancestral groupings (from Europe, East Asia and Africa).

3. 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 526, 68–74 (2015).

4. The Haplotype Reference Consortium. A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet. 48, 1279–1283 (2016).

5. Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016).

Cited by 496 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A holistic approach to understanding immune-mediated inflammatory diseases: bioinformatic tools to integrate omics data;Computational and Structural Biotechnology Journal;2024-12

2. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing;Genetics in Medicine;2024-10

3. Striving for clarity in language about gene expression;Nucleic Acids Research;2024-09-13

4. Certainty in uncertainty: Determining the rate and reasons for reclassification of variants of uncertain significance in haematological malignancies;eJHaem;2024-09-12

5. Single-cell chromatin accessibility reveals malignant regulatory programs in primary human cancers;Science;2024-09-06