Wessim: a whole-exome sequencing simulator based on in silico exome capture

被引:27
|
作者
Kim, Sangwoo [1 ]
Jeong, Kyowon [2 ]
Bafna, Vineet [1 ]
机构
[1] Univ Calif San Diego, Dept Comp Sci & Engn, La Jolla, CA 92093 USA
[2] Univ Calif San Diego, Dept Elect & Comp Engn, La Jolla, CA 92093 USA
基金
美国国家科学基金会;
关键词
COPY-NUMBER VARIATION;
D O I
10.1093/bioinformatics/btt074
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
We propose a targeted re-sequencing simulator Wessim that generates synthetic exome sequencing reads from a given sample genome. Wessim emulates conventional exome capture technologies, including Agilent's SureSelect and NimbleGen's SeqCap, to generate DNA fragments from genomic target regions. The target regions can be either specified by genomic coordinates or inferred from in silico probe hybridization. Coupled with existing next-generation sequencing simulators, Wessim generates a realistic artificial exome sequencing data, which is essential for developing and evaluating exome-targeted variant callers.
引用
收藏
页码:1076 / 1077
页数:2
相关论文
共 50 条
  • [21] Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
    Tammimies, Kristiina
    Marshall, Christian R.
    Walker, Susan
    Kaur, Gaganjot
    Thiruvahindrapuram, Bhooma
    Lionel, Anath C.
    Yuen, Ryan K. C.
    Uddin, Mohammed
    Roberts, Wendy
    Weksberg, Rosanna
    Woodbury-Smith, Marc
    Zwaigenbaum, Lonnie
    Anagnostou, Evdokia
    Wang, Zhuozhi
    Wei, John
    Howe, Jennifer L.
    Gazzellone, Matthew J.
    Lau, Lynette
    Sung, Wilson W. L.
    Whitten, Kathy
    Vardy, Cathy
    Crosbie, Victoria
    Tsang, Brian
    D'Abate, Lia
    Tong, Winnie W. L.
    Luscombe, Sandra
    Doyle, Tyna
    Carter, Melissa T.
    Szatmari, Peter
    Stuckless, Susan
    Merico, Daniele
    Stavropoulos, Dimitri J.
    Scherer, Stephen W.
    Fernandez, Bridget A.
    JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2015, 314 (09): : 895 - 903
  • [22] Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
    Cappi, C.
    Brentani, H.
    Lima, L.
    Sanders, S. J.
    Zai, G.
    Diniz, B. J.
    Reis, V. N. S.
    Hounie, A. G.
    Conceicao do Rosario, M.
    Mariani, D.
    Requena, G. L.
    Puga, R.
    Souza-Duran, F. L.
    Shavitt, R. G.
    Pauls, D. L.
    Miguel, E. C.
    Fernandez, T. V.
    TRANSLATIONAL PSYCHIATRY, 2016, 6 : e764 - e764
  • [23] Whole genome/exome sequencing in mood and psychotic disorders
    Kato, Tadafumi
    PSYCHIATRY AND CLINICAL NEUROSCIENCES, 2015, 69 (02) : 65 - 76
  • [24] A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing
    Gibitova, Ekaterina A.
    Dobrynin, Pavel, V
    Pomerantseva, Ekaterina A.
    Musatova, Elizaveta, V
    Kostareva, Anna
    Evsyukov, Igor
    Rychkov, Sergey Y.
    Zhukova, Olga, V
    Naumova, Oxana Y.
    Grigorenko, Elena L.
    GENES, 2022, 13 (05)
  • [25] Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing
    Intarajak, Thoranin
    Udomchaiprasertkul, Wandee
    Bunyoo, Chakrit
    Yimnoon, Jutamas
    Soonklang, Kamonwan
    Wiriyaukaradecha, Kriangpol
    Lamlertthon, Wisut
    Sricharunrat, Thaniya
    Chaiwiriyawong, Worawit
    Siriphongpreeda, Bunchorn
    Sutheeworapong, Sawannee
    Kusonmano, Kanthida
    Kittichotirat, Weerayuth
    Thammarongtham, Chinae
    Jenjaroenpun, Piroon
    Wongsurawat, Thidathip
    Nookaew, Intawat
    Auewarakul, Chirayu
    Cheevadhanarak, Supapon
    CANCERS, 2019, 11 (07)
  • [26] Exome sequencing and whole genome sequencing for the detection of copy number variation
    Hehir-Kwa, Jayne Y.
    Pfundt, Rolph
    Veltman, Joris A.
    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2015, 15 (08) : 1023 - 1032
  • [27] Adaptive Savitzky-Golay Filters for Analysis of Copy Number Variation Peaks from Whole-Exome Sequencing Data
    Ochieng, Peter Juma
    Maroti, Zoltan
    Dombi, Jozsef
    Kresz, Miklos
    Bekesi, Jozsef
    Kalmar, Tibor
    INFORMATION, 2023, 14 (02)
  • [28] Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
    Tilemis, Faidon-Nikolaos
    Marinakis, Nikolaos M.
    Veltra, Danai
    Svingou, Maria
    Kekou, Kyriaki
    Mitrakos, Anastasios
    Tzetis, Maria
    Kosma, Konstantina
    Makrythanasis, Periklis
    Traeger-Synodinos, Joanne
    Sofocleous, Christalena
    GENES, 2023, 14 (07)
  • [29] ERDS-pe: a paired hidden Markov model for copy number variant detection from whole-exome sequencing data
    Tan, Renjie
    Wang, Jixuan
    Wu, Xiaoliang
    Wan, Guoqiang
    Wang, Rongjie
    Ma, Rui
    Han, Zhijie
    Zhou, Wenyang
    Jin, Shuilin
    Jiang, Qinghua
    Wang, Yadong
    2016 IEEE INTERNATIONAL CONFERENCE ON BIOINFORMATICS AND BIOMEDICINE (BIBM), 2016, : 141 - 144
  • [30] CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability
    Montagne, Louise
    Derhourhi, Mehdi
    Piton, Amelie
    Toussaint, Benedicte
    Durand, Emmanuelle
    Valliant, Emmanuel
    Thuillier, Dorothee
    Gaget, Stefan
    De Graeve, Franck
    Rabearivelo, Iandry
    Lansiaux, Amelie
    Lenne, Bruno
    Sukno, Sylvie
    Desailloud, Rachel
    Cnop, Miriam
    Nicolescu, Ramona
    Cohen, Lior
    Zagury, Jean-Francois
    Amouyal, Melanie
    Weill, Jacques
    Muller, Jean
    Sand, Olivier
    Delobel, Bruno
    Froguel, Philippe
    Bonnefond, Amelie
    MOLECULAR METABOLISM, 2018, 13 : 1 - 9