A framework for the estimation of the proportion of true discoveries in single nucleotide variant detection studies for human data-Reference-Cited by-同舟云学术

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A framework for the estimation of the proportion of true discoveries in single nucleotide variant detection studies for human data

Published:2018-04-25 Issue:4 Volume:13 Page:e0196058
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Tuzov Nik^ORCID

Funder

Partek Inc

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference21 articles.

1. Repurposing germline exomes of the cancer genome atlas demands a cautious approach and sample-specific variant filtering;A Koire;Pac Symp Biocomput,2016

2. Validation and assessment of variant calling pipelines for next-generation sequencing;M Pirooznia;Hum Genomics,2014

3. Performance comparison of SNP detection tools with Illumina exome sequencing data—an assessment using both family pedigree information and sample-matched SNP array data;M Yi;Nucleic Acids Res,2014

4. Variant Callers for Next-Generation Sequencing Data: A Comparison Study;X Liu;PLoS One,2013

5. A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference;A Cornish;Biomed Res Int,2015

Cited by 2 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. Comparative evaluation of the heterozygous variant standard deviation as a quality measure for next-generation sequencing;Journal of Biomedical Informatics;2022-11

2. Whole-genome sequencing data of Kazakh individuals;BMC Research Notes;2021-02-04

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