Validation and assessment of variant calling pipelines for next-generation sequencing

被引：0
|
作者：
Mehdi Pirooznia
Melissa Kramer
Jennifer Parla
Fernando S Goes
James B Potash
W Richard McCombie
Peter P Zandi
机构：
[1] Johns Hopkins University,Department of Psychiatry and Behavioral Sciences
[2] Cold Spring Harbor Laboratory,Stanley Institute for Cognitive Genomics
[3] University of Iowa School of Medicine,Department of Psychiatry, Carver College of Medicine
[4] Cold Spring Harbor,Watson School of Biological Science, Cold Spring Harbor Laboratory
[5] Johns Hopkins Bloomberg School of Public Health,Department of Mental Health
来源：
Human Genomics | / 8卷
关键词：
Variant calling pipelines; Next-generation sequencing; Exome sequencing;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] Validation and assessment of variant calling pipelines for next-generation sequencing
    Pirooznia, Mehdi
    Kramer, Melissa
    Parla, Jennifer
    Goes, Fernando S.
    Potash, James B.
    McCombie, W. Richard
    Zandi, Peter P.
    [J]. HUMAN GENOMICS, 2014, 8 : 14
  • [2] Methodical comparison of variant calling pipelines for next generation sequencing data
    Bobbili, D. R.
    Sturm, M.
    May, P.
    Sharma, M.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 721 - 721
  • [3] Systematic comparison of variant calling pipelines of target genome sequencing cross multiple next-generation sequencers
    Feng, Baosheng
    Lai, Juan
    Fan, Xue
    Liu, Yongfeng
    Wang, Miao
    Wu, Ping
    Zhou, Zhiliang
    Yan, Qin
    Sun, Lei
    [J]. FRONTIERS IN GENETICS, 2024, 14
  • [4] Targeted next-generation sequencing for clinical of genomic profiles of idiopathic infertile men and a comparison of variant calling pipelines
    Raicu, F.
    Coco, R.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 656 - 656
  • [5] Comparison of seven SNP calling pipelines for the next-generation sequencing data of chickens
    Liu, Jing
    Shen, Qingmiao
    Bao, Haigang
    [J]. PLOS ONE, 2022, 17 (01):
  • [6] Systematic comparison of germline variant calling pipelines cross multiple next-generation sequencers
    Jiayun Chen
    Xingsong Li
    Hongbin Zhong
    Yuhuan Meng
    Hongli Du
    [J]. Scientific Reports, 9
  • [7] Systematic comparison of germline variant calling pipelines cross multiple next-generation sequencers
    Chen, Jiayun
    Li, Xingsong
    Zhong, Hongbin
    Meng, Yuhuan
    Du, Hongli
    [J]. SCIENTIFIC REPORTS, 2019, 9 (1)
  • [8] Two-Stage Variant Calling Algorithm for Next-Generation Sequencing Experiments
    Germanas, Sarunas
    [J]. HUMAN HEREDITY, 2016, 81 (04) : 234 - 234
  • [9] Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data
    Sarah Sandmann
    Aniek O. de Graaf
    Mohsen Karimi
    Bert A. van der Reijden
    Eva Hellström-Lindberg
    Joop H. Jansen
    Martin Dugas
    [J]. Scientific Reports, 7
  • [10] xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments
    Farek, Jesse
    Hughes, Daniel
    Salerno, William
    Zhu, Yiming
    Pisupati, Aishwarya
    Mansfield, Adam
    Krasheninina, Olga
    English, Adam C.
    Metcalf, Ginger
    Boerwinkle, Eric
    Muzny, Donna M.
    Gibbs, Richard
    Khan, Ziad
    Sedlazeck, Fritz J.
    [J]. GIGASCIENCE, 2023, 12
12345