标题
Estimation of Copy Number Alterations from Exome Sequencing Data
作者
关键词
Comparative genomics, Chromosomal deletions, Genome sequencing, Cancer genomics, X chromosomes, Next-generation sequencing, Point mutation, Somatic mutation
出版物
PLoS One
Volume 7, Issue 12, Pages e51422
出版商
Public Library of Science (PLoS)
发表日期
2012-12-20
DOI
10.1371/journal.pone.0051422
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing
- (2015) Robert J. Lonigro et al. NEOPLASIA
- CONTRA: copy number analysis for targeted resequencing
- (2012) Jason Li et al. BIOINFORMATICS
- Copy number variation detection and genotyping from exome sequence data
- (2012) N. Krumm et al. GENOME RESEARCH
- VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
- (2012) D. C. Koboldt et al. GENOME RESEARCH
- Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa
- (2012) Yun Wang et al. PLoS One
- Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome
- (2011) Xose S. Puente et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
- (2011) Jarupon Fah Sathirapongsasuti et al. BIOINFORMATICS
- Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML
- (2011) Daniel C. Link JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
- (2011) Ignacio Varela et al. NATURE
- Initial genome sequencing and analysis of multiple myeloma
- (2011) Michael A. Chapman et al. NATURE
- Integrated genomic analyses of ovarian carcinoma
- (2011) D. Bell et al. NATURE
- Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
- (2011) Xose S. Puente et al. NATURE
- Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia
- (2011) Víctor Quesada et al. NATURE GENETICS
- Unlocking Mendelian disease using exome sequencing
- (2011) Christian Gilissen et al. GENOME BIOLOGY
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- An Integrated Approach to Uncover Drivers of Cancer
- (2010) Uri David Akavia et al. CELL
- Copy number and targeted mutational analysis reveals novel somatic events in metastatic prostate tumors
- (2010) C. M. Robbins et al. GENOME RESEARCH
- Copy number variants at Williams–Beuren syndrome 7q11.23 region
- (2010) Giuseppe Merla et al. HUMAN GENETICS
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
- (2010) Kaya Bilgüvar et al. NATURE
- The landscape of somatic copy-number alteration across human cancers
- (2010) Rameen Beroukhim et al. NATURE
- International network of cancer genome projects
- (2010) Thomas J. Hudson (Chairperson) et al. NATURE
- Advances in understanding cancer genomes through second-generation sequencing
- (2010) Matthew Meyerson et al. NATURE REVIEWS GENETICS
- DNMT3AMutations in Acute Myeloid Leukemia
- (2010) Timothy J. Ley et al. NEW ENGLAND JOURNAL OF MEDICINE
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas
- (2010) J. W. Harbour et al. SCIENCE
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- miR-15a and miR-16-1 in cancer: discovery, function and future perspectives
- (2009) R I Aqeilan et al. CELL DEATH AND DIFFERENTIATION
- A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
- (2009) H. C. Mefford et al. GENOME RESEARCH
- A small-cell lung cancer genome with complex signatures of tobacco exposure
- (2009) Erin D. Pleasance et al. NATURE
- A comprehensive catalogue of somatic mutations from a human cancer genome
- (2009) Erin D. Pleasance et al. NATURE
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- The cancer genome
- (2009) Michael R. Stratton et al. NATURE
- Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
- (2009) Andreas Gnirke et al. NATURE BIOTECHNOLOGY
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing
- (2009) Emily Hodges et al. Nature Protocols
- Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome
- (2009) Elaine R. Mardis et al. NEW ENGLAND JOURNAL OF MEDICINE
- DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
- (2008) Timothy J. Ley et al. NATURE
- Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
- (2008) Peter J Campbell et al. NATURE GENETICS
- Mapping and quantifying mammalian transcriptomes by RNA-Seq
- (2008) Ali Mortazavi et al. NATURE METHODS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started