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。From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Anna Lindstrand et al.
GENOME MEDICINE (2019)
CNV biology in neurodevelopmental disorders
Toru Takumi et al.
CURRENT OPINION IN NEUROBIOLOGY (2018)
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Rolph Pfundt et al.
GENETICS IN MEDICINE (2017)
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data
Ruen Yao et al.
MOLECULAR CYTOGENETICS (2017)
CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data
Jonathan S. Packer et al.
BIOINFORMATICS (2016)
svclassify: a method to establish benchmark structural variant calls
Hemang Parikh et al.
BMC GENOMICS (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing
Eric Talevich et al.
PLOS COMPUTATIONAL BIOLOGY (2016)
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Dimitri J. Stavropoulos et al.
NPJ GENOMIC MEDICINE (2016)
MetaSV: an accurate and integrative structural-variant caller for next generation sequencing
Marghoob Mohiyuddin et al.
BIOINFORMATICS (2015)
An integrated map of structural variation in 2,504 human genomes
Peter H. Sudmant et al.
NATURE (2015)
Assembly and diploid architecture of an individual human genome via single-molecule technologies
Matthew Pendleton et al.
NATURE METHODS (2015)
A copy number variation map of the human genome
Mehdi Zarrei et al.
NATURE REVIEWS GENETICS (2015)
DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data
Yuanwei Zhang et al.
NUCLEIC ACIDS RESEARCH (2015)
CODEX: a normalization and copy number variation detection method for whole exome sequencing
Yuchao Jiang et al.
NUCLEIC ACIDS RESEARCH (2015)
Detection of genomic structural variants from next-generation sequencing data
Lorenzo Tattini et al.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY (2015)
PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data
Chen Wang et al.
BIOINFORMATICS (2014)
Detection of internal exon deletion with exon Del
Yan Guo et al.
BMC BIOINFORMATICS (2014)
Identification of copy number variants from exome sequence data
Pubudu Saneth Samarakoon et al.
BMC GENOMICS (2014)
An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data
Renjie Tan et al.
HUMAN MUTATION (2014)
CANOES: detecting rare copy number variants from whole exome sequencing data
Daniel Backenroth et al.
NUCLEIC ACIDS RESEARCH (2014)
LUMPY: a probabilistic framework for structural variant discovery
Ryan M. Layer et al.
GENOME BIOLOGY (2014)
FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data
Yuhao Shi et al.
BIOINFORMATICS (2013)
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives
Min Zhao et al.
BMC BIOINFORMATICS (2013)
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
Menachem Fromer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
CONTRA: copy number analysis for targeted resequencing
Jason Li et al.
BIOINFORMATICS (2012)
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
Vincent Plagnol et al.
BIOINFORMATICS (2012)
Copy number variation detection and genotyping from exome sequence data
Niklas Krumm et al.
GENOME RESEARCH (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate
Guenter Klambauer et al.
NUCLEIC ACIDS RESEARCH (2012)
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
Alexej Abyzov et al.
GENOME RESEARCH (2011)
Mapping copy number variation by population-scale genome sequencing
Ryan E. Mills et al.
NATURE (2011)
Modeling Read Counts for CNV Detection in Exome Sequencing Data
Michael I. Love et al.
STATISTICAL APPLICATIONS IN GENETICS AND MOLECULAR BIOLOGY (2011)
Origins and functional impact of copy number variation in the human genome
Donald F. Conrad et al.
NATURE (2010)
Integrating common and rare genetic variation in diverse human populations
David M. Altshuler et al.
NATURE (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
Copy Number Variation in Human Health, Disease, and Evolution
Feng Zhang et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
Gregory M. Cooper et al.
NATURE GENETICS (2008)
Integrated detection and population-genetic analysis of SNPs and copy number variation
Steven A. McCarroll et al.
NATURE GENETICS (2008)
Copy-number variation in control population cohorts (vol 16, pg 168, 2007)
Dalila Pinto et al.
HUMAN MOLECULAR GENETICS (2008)
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
Kai Wang et al.
GENOME RESEARCH (2007)
Copy-number variation and association studies of human disease
Steven A. McCarroll et al.
NATURE GENETICS (2007)
Global variation in copy number in the human genome
Richard Redon et al.
NATURE (2006)
Common deletion polymorphisms in the human genome
SA McCarroll et al.
NATURE GENETICS (2006)
A high-resolution survey of deletion polymorphism in the human genome
DF Conrad et al.
NATURE GENETICS (2006)
分享论文
