Estimation of Copy Number Alterations from Exome Sequencing Data

PLoS ONE ◽

10.1371/journal.pone.0051422 ◽

2012 ◽

Vol 7 (12) ◽

pp. e51422 ◽

Author(s):

Rafael Valdés-Mas ◽

Silvia Bea ◽

Diana A. Puente ◽

Carlos López-Otín ◽

Xose S. Puente

Keyword(s):

Exome Sequencing ◽

Copy Number ◽

Copy Number Alterations ◽

Sequencing Data ◽

Exome Sequencing Data

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Gene-based comparative analysis of tools for estimating copy number alterations using whole-exome sequencing data

10.18632/oncotarget.15932 ◽

2017 ◽

Vol 8 (16) ◽

pp. 27277-27285 ◽

Author(s):

Hyung-Yong Kim ◽

Jin-Woo Choi ◽

Jeong-Yeon Lee ◽

Gu Kong

Keyword(s):

Comparative Analysis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Copy Number ◽

Copy Number Alterations ◽

Sequencing Data ◽

Exome Sequencing Data ◽

Whole Exome ◽

Whole Exome Sequencing Data

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CloneCNA: detecting subclonal somatic copy number alterations in heterogeneous tumor samples from whole-exome sequencing data

BMC Bioinformatics ◽

10.1186/s12859-016-1174-7 ◽

2016 ◽

Vol 17 (1) ◽

Author(s):

Zhenhua Yu ◽

Ao Li ◽

Minghui Wang

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Copy Number ◽

Copy Number Alterations ◽

Sequencing Data ◽

Exome Sequencing Data ◽

Whole Exome ◽

Whole Exome Sequencing Data ◽

Somatic Copy Number Alterations ◽

Heterogeneous Tumor

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Clinically significant exome-based copy number variants detected by re-evaluation of exome sequencing data

Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi ◽

10.5505/deutfd.2021.29053 ◽

2021 ◽

Vol 35 (1) ◽

pp. 1-11

Author(s):

Fatma Kurt Çolak

Keyword(s):

Exome Sequencing ◽

Copy Number ◽

Copy Number Variants ◽

Sequencing Data ◽

Exome Sequencing Data ◽

Clinically Significant

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Estimation of copy number aberrations: Comparison of exome sequencing data with SNP microarrays identifies homozygous deletions of 19q13.2 and CIC in neuroblastoma

International Journal of Oncology ◽

10.3892/ijo.2016.3349 ◽

2016 ◽

Vol 48 (3) ◽

pp. 1103-1116 ◽

Author(s):

SUSANNE FRANSSON ◽

MALIN ÖSTENSSON ◽

ANNA DJOS ◽

NILOUFAR JAVANMARDI ◽

PER KOGNER ◽

...

Keyword(s):

Exome Sequencing ◽

Copy Number ◽

Sequencing Data ◽

Copy Number Aberrations ◽

Exome Sequencing Data ◽

Snp Microarrays ◽

Homozygous Deletions

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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

Journal of Human Genetics ◽

10.1038/jhg.2014.124 ◽

2015 ◽

Vol 60 (4) ◽

pp. 175-182 ◽

Author(s):

Satoko Miyatake ◽

Eriko Koshimizu ◽

Atsushi Fujita ◽

Ryoko Fukai ◽

Eri Imagawa ◽

...

Keyword(s):

Markov Model ◽

Hidden Markov Model ◽

Exome Sequencing ◽

Copy Number ◽

Hidden Markov ◽

Copy Number Variations ◽

Sequencing Data ◽

Exome Sequencing Data ◽

Whole Exome ◽

Whole Exome Sequencing Data

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Evaluation of somatic copy number estimation tools for whole-exome sequencing data

Briefings in Bioinformatics ◽

10.1093/bib/bbv055 ◽

2015 ◽

Vol 17 (2) ◽

pp. 185-192 ◽

Author(s):

Jae-Yong Nam ◽

Nayoung K. D. Kim ◽

Sang Cheol Kim ◽

Je-Gun Joung ◽

Ruibin Xi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Copy Number ◽

Sequencing Data ◽

Copy Number Estimation ◽

Exome Sequencing Data ◽

Whole Exome ◽

Whole Exome Sequencing Data

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Erratum to: CoNVEX: copy number variation estimation in exome sequencing data using HMM

BMC Bioinformatics ◽

10.1186/1471-2105-14-s2-s26 ◽

2013 ◽

Vol 14 (S2) ◽

Author(s):

Kaushalya C Amarasinghe ◽

Jason Li ◽

Saman K Halgamuge

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Copy Number ◽

Sequencing Data ◽

Exome Sequencing Data ◽

Number Variation

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SA55GENOME-WIDE ASSOCIATION OF COPY NUMBER VARIANTS FROM WHOLE-EXOME SEQUENCING DATA REVEALS AN ASSOCIATION BETWEEN EXTREMES IN WORKING MEMORY PERFORMANCE AND RARE CNVS

European Neuropsychopharmacology ◽

10.1016/j.euroneuro.2018.08.277 ◽

2019 ◽

Vol 29 ◽

pp. S1218

Author(s):

Angela Heck ◽

Annette Milnik ◽

Vanja Vukojevic ◽

Jana Petrovska ◽

Virginie Freytag ◽

...

Keyword(s):

Working Memory ◽

Exome Sequencing ◽

Copy Number ◽

Memory Performance ◽

Copy Number Variants ◽

Sequencing Data ◽

Rare Cnvs ◽

Exome Sequencing Data ◽

Whole Exome ◽

Whole Exome Sequencing Data

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ExomeHMM: A Hidden Markov Model for Detecting Copy Number Variation Using Whole-Exome Sequencing Data

Current Bioinformatics ◽

10.2174/1574893611666160727160757 ◽

2017 ◽

Vol 12 (2) ◽

pp. 147-155 ◽

Author(s):

Ao Li ◽

Minghui Wang ◽

Zhenhua Yu ◽

Cheng Guo

Keyword(s):

Copy Number Variation ◽

Markov Model ◽

Exome Sequencing ◽

Copy Number ◽

Hidden Markov ◽

Sequencing Data ◽

Exome Sequencing Data ◽

Whole Exome ◽

Whole Exome Sequencing Data ◽

Number Variation

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Anaconda: AN automated pipeline for somatic COpy Number variation Detection and Annotation from tumor exome sequencing data

BMC Bioinformatics ◽

10.1186/s12859-017-1833-3 ◽

2017 ◽

Vol 18 (1) ◽

Author(s):

Jianing Gao ◽

Changlin Wan ◽

Huan Zhang ◽

Ao Li ◽

Qiguang Zang ◽

...

Keyword(s):

Copy Number Variation ◽

Exome Sequencing ◽

Copy Number ◽

Sequencing Data ◽

Exome Sequencing Data ◽

Number Variation ◽

Automated Pipeline ◽

Copy Number Variation Detection

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