CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

CODEX: a normalization and copy number variation detection method for whole exome sequencing

(2015) Yuchao Jiang et al.   NUCLEIC ACIDS RESEARCH

An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

(2014) Renjie Tan et al.   HUMAN MUTATION

Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy

(2014) Yan Wang et al.   MOLECULAR GENETICS AND GENOMICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

CANOES: detecting rare copy number variants from whole exome sequencing data

(2014) Daniel Backenroth et al.   NUCLEIC ACIDS RESEARCH

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

(2013) Aurélie Vasson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green

(2013) Andrew Ebenazer et al.   Familial Cancer

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

(2013) Birgit Sikkema-Raddatz et al.   HUMAN MUTATION

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

(2013) Alberto Magi et al.   GENOME BIOLOGY

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

(2011) Daniel Aird et al.   GENOME BIOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS