Best practices for benchmarking germline small-variant calls in human genomes-Reference-Cited by-同舟云学术

Best practices for benchmarking germline small-variant calls in human genomes

Published:2019-03-11 Issue:5 Volume:37 Page:555-560
ISSN:1087-0156
Container-title:Nature Biotechnology
language:en
Short-container-title:Nat Biotechnol

Author:

Krusche Peter, ,Trigg Len,Boutros Paul C.^ORCID,Mason Christopher E.^ORCID,De La Vega Francisco M.^ORCID,Moore Benjamin L.^ORCID,Gonzalez-Porta Mar,Eberle Michael A.,Tezak Zivana,Lababidi Samir,Truty Rebecca,Asimenos George,Funke Birgit,Fleharty Mark,Chapman Brad A.,Salit Marc,Zook Justin M.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Biomedical Engineering,Molecular Medicine,Applied Microbiology and Biotechnology,Bioengineering,Biotechnology

Link

http://www.nature.com/articles/s41587-019-0054-x.pdf

Reference30 articles.

1. Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. J. Am. Med. Assoc. 312, 1870–1879 (2014).

2. Xue, Y., Ankala, A., Wilcox, W. R. & Hegde, M. R. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet. Med. 17, 444–451 (2015).

3. Danecek, P. et al. The variant call format and VCFtools. Bioinformatics 27, 2156–2158 (2011).

4. Zook, J. M. et al. Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls. Nat. Biotechnol. 32, 246–251 (2014).

5. Zook, J. M. et al. Extensive sequencing of seven human genomes to characterize benchmark reference materials. Sci. Data 3, 160025 (2016).

Cited by 300 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. NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling;F1000Research;2024-09-12

2. Personalized pangenome references;Nature Methods;2024-09-11

3. CIEVaD: A Lightweight Workflow Collection for the Rapid and On-Demand Deployment of End-to-End Testing for Genomic Variant Detection;Viruses;2024-09-11

4. Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data;The Journal of Molecular Diagnostics;2024-09

5. Insertions and Deletions: Computational Methods, Evolutionary Dynamics, and Biological Applications;Molecular Biology and Evolution;2024-08-22