Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

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

Copy Number Variation detection from 1000 Genomes project exon capture sequencing data

(2012) Jiantao Wu et al.   BMC BIOINFORMATICS

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

(2012) Swaroop Aradhya et al.   GENETICS IN MEDICINE

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

(2011) Patricia B.S. Celestino-Soper et al.   HUMAN MOLECULAR GENETICS

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

(2011) K. D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies

(2011) Özlem Yalçın   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

The clinical context of copy number variation in the human genome

(2010) Charles Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

(2009) Marwan K Tayeh et al.   GENETICS IN MEDICINE