Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population

被引：0
|
作者：
Ikuko N Motoike
Mitsuyo Matsumoto
Inaho Danjoh
Fumiki Katsuoka
Kaname Kojima
Naoki Nariai
Yukuto Sato
Yumi Yamaguchi-Kabata
Shin Ito
Hisaaki Kudo
Ichiko Nishijima
Satoshi Nishikawa
Xiaoqing Pan
Rumiko Saito
Sakae Saito
Tomo Saito
Matsuyuki Shirota
Kaoru Tsuda
Junji Yokozawa
Kazuhiko Igarashi
Naoko Minegishi
Osamu Tanabe
Nobuo Fuse
Masao Nagasaki
Kengo Kinoshita
Jun Yasuda
Masayuki Yamamoto
机构：
[1] Tohoku University,Department of Integrative Genomics, Tohoku Medical Megabank Organization
[2] Tohoku University,Department of Biobank, Tohoku Medical Megabank Organization
[3] Tohoku University,Department of Applied Information Sciences, Graduate School of Information Sciences
[4] Tohoku University Graduate School of Medicine,Department of Biochemistry
[5] Tohoku University Graduate School of Medicine,Department of Medical Biochemistry
[6] Tohoku University Graduate School of Medicine,United Centers for Advanced Research and Translational Medicine
[7] Tohoku University,Institute of Development, Aging, and Cancer
来源：
BMC Genomics | / 15卷
关键词：
Next-generation sequencer; Population genetics; Whole-genome sequencing; Single nucleotide variations; Semiconductor-type sequencer;
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 32 条
  • [1] Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population
    Motoike, Ikuko N.
    Matsumoto, Mitsuyo
    Danjoh, Inaho
    Katsuoka, Fumiki
    Kojima, Kaname
    Nariai, Naoki
    Sato, Yukuto
    Yamaguchi-Kabata, Yumi
    Ito, Shin
    Kudo, Hisaaki
    Nishijima, Ichiko
    Nishikawa, Satoshi
    Pan, Xiaoqing
    Saito, Rumiko
    Saito, Sakae
    Saito, Tomo
    Shirota, Matsuyuki
    Tsuda, Kaoru
    Yokozawa, Junji
    Igarashi, Kazuhiko
    Minegishi, Naoko
    Tanabe, Osamu
    Fuse, Nobuo
    Nagasaki, Masao
    Kinoshita, Kengo
    Yasuda, Jun
    Yamamoto, Masayuki
    BMC GENOMICS, 2014, 15
  • [2] Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing
    Lucy Crooks
    Johnathan Cooper-Knock
    Paul R. Heath
    Ahmed Bouhouche
    Mostafa Elfahime
    Mimoun Azzouz
    Youssef Bakri
    Mohammed Adnaoui
    Azeddine Ibrahimi
    Saaïd Amzazi
    Rachid Tazi-Ahnini
    BMC Genetics, 21
  • [3] Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing
    Crooks, Lucy
    Cooper-Knock, Johnathan
    Heath, Paul R.
    Bouhouche, Ahmed
    Elfahime, Mostafa
    Azzouz, Mimoun
    Bakri, Youssef
    Adnaoui, Mohammed
    Ibrahimi, Azeddine
    Amzazi, Saaid
    Tazi-Ahnini, Rachid
    BMC GENETICS, 2020, 21 (01)
  • [4] Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis
    Maroti, Zoltan
    Boldogkoi, Zsolt
    Tombacz, Dora
    Snyder, Michael
    Kalmar, Tibor
    BMC GENOMICS, 2018, 19
  • [5] Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis
    Zoltán Maróti
    Zsolt Boldogkői
    Dóra Tombácz
    Michael Snyder
    Tibor Kalmár
    BMC Genomics, 19
  • [6] Population analysis of the Korean native duck using whole-genome sequencing data
    Lee, Daehwan
    Lee, Jongin
    Heo, Kang-Neung
    Kwon, Kisang
    Moon, Youngbeen
    Lim, Dajeong
    Lee, Kyung-Tai
    Kim, Jaebum
    BMC GENOMICS, 2020, 21 (01)
  • [7] Population analysis of the Korean native duck using whole-genome sequencing data
    Daehwan Lee
    Jongin Lee
    Kang-Neung Heo
    Kisang Kwon
    Youngbeen Moon
    Dajeong Lim
    Kyung-Tai Lee
    Jaebum Kim
    BMC Genomics, 21
  • [8] Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses
    Sealock, Julia M.
    Ivankovic, Franjo
    Liao, Calwing
    Chen, Siwei
    Churchhouse, Claire
    Karczewski, Konrad J.
    Howrigan, Daniel P.
    Neale, Benjamin M.
    NATURE PROTOCOLS, 2025,
  • [9] Source Attribution of Human Campylobacteriosis Using Whole-Genome Sequencing Data and Network Analysis
    Wainaina, Lynda
    Merlotti, Alessandra
    Remondini, Daniel
    Henri, Clementine
    Hald, Tine
    Njage, Patrick Murigu Kamau
    PATHOGENS, 2022, 11 (06):
  • [10] Population Structure and Selection Signal Analysis of Nanyang Cattle Based on Whole-Genome Sequencing Data
    Zhang, Yan
    Wei, Zhitong
    Zhang, Man
    Wang, Shiwei
    Gao, Tengyun
    Huang, Hetian
    Zhang, Tianliu
    Cai, Hanfang
    Liu, Xian
    Fu, Tong
    Liang, Dong
    GENES, 2024, 15 (03)
1234