Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing-Reference-Cited by-同舟云学术

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

Published:2013 Issue:3 Volume:5 Page:28
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Medicine

Author:

O'Rawe Jason,Jiang Tao,Sun Guangqing,Wu Yiyang,Wang Wei,Hu Jingchu,Bodily Paul,Tian Lifeng,Hakonarson Hakon,Johnson W Evan,Wei Zhi,Wang Kai,Lyon Gholson J

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine

Reference51 articles.

1. An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

2. Human Genetic Individuality

3. A public resource facilitating clinical use of genomes

4. The advent of personal genome sequencing

5. Limitations of the Human Reference Genome for Personalized Genomics

Cited by 365 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. Cortexa: a comprehensive resource for studying gene expression and alternative splicing in the murine brain;BMC Bioinformatics;2024-09-05

2. Benchmarking UMI-aware and standard variant callers for low frequency ctDNA variant detection;BMC Genomics;2024-09-03

3. We are doing it wrong: Putting homology before phylogeny in cyanobacterial taxonomy;Journal of Phycology;2024-08-17

4. A Novel Affordable and Reliable Framework for Accurate Detection and Comprehensive Analysis of Somatic Mutations in Cancer;International Journal of Molecular Sciences;2024-07-24

5. Missing genotype imputation in non‐model species using self‐organizing maps;Molecular Ecology Resources;2024-07-06