Comparative Analysis of Structural Variant Callers on Short-Read Whole-Genome Sequencing Data

被引:0
|
作者
A. A. Mkrtchyan
K. S. Grammatikati
P. G. Kazakova
S. I. Mitrofanov
P. U. Zemsky
A. A. Ivashechkin
M. N. Pilipenko
D. V. Svetlichny
A. P. Sergeev
E. A. Snigir
L. V. Frolova
T. A. Shpakova
V. S. Yudin
A. A. Keskinov
S. M. Yudin
V. I. Skvortsova
机构
[1] Center for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological Agency,
[2] Federal Medical Biological Agency,undefined
来源
Russian Journal of Genetics | 2023年 / 59卷
关键词
structural variants; whole-genome sequencing; short-read sequencing; alignment; GIAB;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:595 / 613
页数:18
相关论文
共 50 条
  • [1] Comparative Analysis of Structural Variant Callers on Short-Read Whole-Genome Sequencing Data
    Mkrtchyan, A. A.
    Grammatikati, K. S.
    Kazakova, P. G.
    Mitrofanov, S. I.
    Zemsky, P. U.
    Ivashechkin, A. A.
    Pilipenko, M. N.
    Svetlichny, D. V.
    Sergeev, A. P.
    Snigir, E. A.
    Frolova, L. V.
    Shpakova, T. A.
    Yudin, V. S.
    Keskinov, A. A.
    Yudin, S. M.
    Skvortsova, V. I.
    RUSSIAN JOURNAL OF GENETICS, 2023, 59 (06) : 595 - 613
  • [2] On the (im)possibility of reconstructing plasmids from whole-genome short-read sequencing data
    Arredondo-Alonso, Sergio
    Willems, Rob J.
    van Schaik, Willem
    Schurch, Anita C.
    MICROBIAL GENOMICS, 2017, 3 (10):
  • [3] Determining Streptococcus suis serotype from short-read whole-genome sequencing data
    Athey, Taryn B. T.
    Teatero, Sarah
    Lacouture, Sonia
    Takamatsu, Daisuke
    Gottschalk, Marcelo
    Fittipaldi, Nahuel
    BMC MICROBIOLOGY, 2016, 16
  • [4] Determining Streptococcus suis serotype from short-read whole-genome sequencing data
    Taryn B. T. Athey
    Sarah Teatero
    Sonia Lacouture
    Daisuke Takamatsu
    Marcelo Gottschalk
    Nahuel Fittipaldi
    BMC Microbiology, 16
  • [5] Comparative analysis of 7 short-read sequencing platforms using the Korean Reference Genome: MGI and Illumina sequencing benchmark for whole-genome sequencing
    Kim, Hak-Min
    Jeon, Sungwon
    Chung, Oksung
    Jun, Je Hoon
    Kim, Hui-Su
    Blazyte, Asta
    Lee, Hwang-Yeol
    Yu, Youngseok
    Cho, Yun Sung
    Bolser, Dan M.
    Bhak, Jong
    GIGASCIENCE, 2021, 10 (03):
  • [6] Deriving Group A Streptococcus Typing Information from Short-Read Whole-Genome Sequencing Data
    Athey, Taryn B. T.
    Teatero, Sarah
    Li, Aimin
    Marchand-Austin, Alex
    Beall, Bernard W.
    Fittipaldi, Nahuel
    JOURNAL OF CLINICAL MICROBIOLOGY, 2014, 52 (06) : 1871 - 1876
  • [7] Comparison of structural variant callers for massive whole-genome sequence data
    Joe, Soobok
    Park, Jong-Lyul
    Kim, Jun
    Kim, Sangok
    Park, Ji-Hwan
    Yeo, Min-Kyung
    Lee, Dongyoon
    Yang, Jin Ok
    Kim, Seon-Young
    BMC GENOMICS, 2024, 25 (01)
  • [8] Whole-Genome Sequencing and Assembly with High-Throughput, Short-Read Technologies
    Sundquist, Andreas
    Ronaghi, Mostafa
    Tang, Haixu
    Pevzner, Pavel
    Batzoglou, Serafim
    PLOS ONE, 2007, 2 (05):
  • [9] Comparison of structural variant callers for massive whole-genome sequence data
    Soobok Joe
    Jong-Lyul Park
    Jun Kim
    Sangok Kim
    Ji-Hwan Park
    Min-Kyung Yeo
    Dongyoon Lee
    Jin Ok Yang
    Seon-Young Kim
    BMC Genomics, 25
  • [10] A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark
    Pei, Yang
    Tanguy, Melanie
    Giess, Adam
    Dixit, Abhijit
    Wilson, Louise C.
    Gibbons, Richard J.
    Twigg, Stephen R. F.
    Elgar, Greg
    Wilkie, Andrew O. M.
    GENES, 2024, 15 (07)