An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

(2012) Amélie Bonnefond et al.   NATURE GENETICS

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

(2011) Jarupon Fah Sathirapongsasuti et al.   BIOINFORMATICS

Deletion of LCE3C and LCE3B genes is associated with psoriasis in a northern Chinese population

(2011) L. Xu et al.   BRITISH JOURNAL OF DERMATOLOGY

Deletion of the Late Cornified Envelope Genes LCE3C and LCE3B Is Associated with Psoriasis in a Chinese Population

(2011) Miaozhu Li et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Resequencing and Analysis of Variation in the TCF7L2 Gene in African Americans Suggests That SNP rs7903146 Is the Causal Diabetes Susceptibility Variant

(2010) N. D. Palmer et al.   DIABETES

Meta-Analysis Confirms the LCE3C_LCE3B Deletion as a Risk Factor for Psoriasis in Several Ethnic Groups and Finds Interaction with HLA-Cw6

(2010) Eva Riveira-Munoz et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

cnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs

(2010) Lachlan J M Coin et al.   NATURE METHODS

Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors

(2009) Ulrike Hüffmeier et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Copy number variation at 1q21.1 associated with neuroblastoma

(2009) Sharon J. Diskin et al.   NATURE

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

(2009) Rafael de Cid et al.   NATURE GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS