Alternate-locus aware variant calling in whole genome sequencing

被引:0
作者
Marten Jäger
Max Schubach
Tomasz Zemojtel
Knut Reinert
Deanna M. Church
Peter N. Robinson
机构
[1] Charité-Universitätsmedizin Berlin,Institute for Medical and Human Genetics
[2] Charité-Universitätsmedizin Berlin,Berlin Brandenburg Center for Regenerative Therapies (BCRT)
[3] Freie Universität Berlin,Institute for Bioinformatics, Department of Mathematics and Computer Science
[4] 10x Genomics,Institute for Systems Genomics
[5] The Jackson Laboratory for Genomic Medicine,undefined
[6] University of Connecticut,undefined
来源
Genome Medicine | / 8卷
关键词
GRCh38; NGS; WGS; Genome 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
[21]   Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis [J].
Maroti, Zoltan ;
Boldogkoi, Zsolt ;
Tombacz, Dora ;
Snyder, Michael ;
Kalmar, Tibor .
BMC GENOMICS, 2018, 19
[22]   Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine [J].
Tsai, Ellen A. ;
Shakbatyan, Rimma ;
Evans, Jason ;
Rossetti, Peter ;
Graham, Chet ;
Sharma, Himanshu ;
Lin, Chiao-Feng ;
Lebo, Matthew S. .
JOURNAL OF PERSONALIZED MEDICINE, 2016, 6 (01)
[23]   Whole genome sequencing in clinical and public health microbiology [J].
Kwong, J. C. ;
McCallum, N. ;
Sintchenko, V. ;
Howden, B. P. .
PATHOLOGY, 2015, 47 (03) :199-210
[24]   Rapid whole genome sequencing methods for RNA viruses [J].
Misu, Masayasu ;
Yoshikawa, Tomoki ;
Sugimoto, Satoko ;
Takamatsu, Yuki ;
Kurosu, Takeshi ;
Ouji, Yukiteru ;
Yoshikawa, Masahide ;
Shimojima, Masayuki ;
Ebihara, Hideki ;
Saijo, Masayuki .
FRONTIERS IN MICROBIOLOGY, 2023, 14
[25]   Whole Genome Sequencing: Revolutionary Medicine or Privacy Nightmare? [J].
Ayday, Erman ;
De Cristofaro, Emiliano ;
Hubaux, Jean-Pierre ;
Tsudik, Gene .
COMPUTER, 2015, 48 (02) :58-66
[26]   Whole genome sequencing and phylogenetic analysis of feline anelloviruses [J].
Jarosova, Veronika ;
Hrazdilova, Kristyna ;
Filipejova, Zita ;
Schanilec, Pavel ;
Celer, Vladimir .
INFECTION GENETICS AND EVOLUTION, 2015, 32 :130-134
[27]   Whole mitochondrial genome sequencing of Malaysian patients with cardiomyopathy [J].
Kuan, Sheh Wen ;
Chua, Kek Heng ;
Tan, E-Wei ;
Tan, Lay Koon ;
Loch, Alexander ;
Kee, Boon Pin .
PEERJ, 2022, 10
[28]   The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing [J].
Jun, Jae Won ;
Seo, Yuri ;
Han, Sueng-Han ;
Han, Jinu .
OPHTHALMIC GENETICS, 2023, 44 (03) :286-290
[29]   Longitudinal whole-genome sequencing reveals the evolution of MPAL [J].
Zhang, Yu ;
Kang, Zhijie ;
Lv, Dekang ;
Zhang, Xuehong ;
Liao, Yuwei ;
Li, Yulong ;
Liu, Ruimei ;
Li, Peiying ;
Tong, Mengying ;
Tian, Jichao ;
Shao, Yanyan ;
Huang, Chao ;
Ge, Dongcen ;
Zhang, Jingkai ;
Bai, Wanting ;
Wang, Yichen ;
Liu, Quentin ;
Li, Zhiguang ;
Yan, Jinsong .
CANCER GENETICS, 2020, 240 :59-65
[30]   Whole-Genome Sequencing in Epidemiology of Campylobacter jejuni Infections [J].
Llarena, Ann-Katrin ;
Taboada, Eduardo ;
Rossi, Mirko .
JOURNAL OF CLINICAL MICROBIOLOGY, 2017, 55 (05) :1269-1275