affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling

Following the footprints of polymorphic inversions on SNP data: from detection to association tests

(2015) Alejandro Cáceres et al.   NUCLEIC ACIDS RESEARCH

Using theRPackagecrlmmfor Genotyping and Copy Number Estimation

(2015) Robert B. Scharpf et al.   Journal of Statistical Software

A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity

(2014) Juan R. González et al.   AMERICAN JOURNAL OF HUMAN GENETICS

On the identification of potential regulatory variants within genome wide association candidate SNP sets

(2014) Chih-yu Chen et al.   BMC Medical Genomics

Somatic Mosaicism and Disease

(2014) Steven A. Frank   CURRENT BIOLOGY

Copy number variants in clinical next-generation sequencing data can define the relationship between simultaneous tumors in an individual patient

(2014) Jennifer K. Sehn et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

Confined trisomy 8 mosaicism of meiotic origin: A rare cause of aneuploidy in childhood cancer

(2014) Anders Valind et al.   GENES CHROMOSOMES & CANCER

A high-resolution copy-number variation resource for clinical and population genetics

(2014) Mohammed Uddin et al.   GENETICS IN MEDICINE

Genome-wide interaction studies reveal sex-specific asthma risk alleles

(2014) Rachel A. Myers et al.   HUMAN MOLECULAR GENETICS

Post-GWAS gene–environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79 000 women

(2014) Myrto Barrdahl et al.   HUMAN MOLECULAR GENETICS

Genome-Wide Analyses of ChIP-Seq Derived FOXA2 DNA Occupancy in Liver Points to Genetic Networks Underpinning Multiple Complex Traits

(2014) Matthew E. Johnson et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

DNA Copy Number Variations in Patients with 46,XY Disorders of Sex Development

(2014) Steven M. Harrison et al.   JOURNAL OF UROLOGY

A Polymorphism rs12325489C>T in the LincRNA-ENST00000515084 Exon Was Found to Modulate Breast Cancer Risk via GWAS-Based Association Analyses

(2014) Na Li et al.   PLoS One

Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling

(2014) Marian JPL Stevens-Kroef et al.   Molecular Cytogenetics

Detectable Clonal Mosaicism in the Human Genome

(2013) Mitchell J. Machiela et al.   SEMINARS IN HEMATOLOGY

Quantifying Missing Heritability at Known GWAS Loci

(2013) Alexander Gusev et al.   PLoS Genetics

Identification of polymorphic inversions from genotypes

(2012) Alejandro Cáceres et al.   BMC BIOINFORMATICS

Genome-wide association study of body mass index in 23 000 individuals with and without asthma

(2012) E. Melén et al.   CLINICAL AND EXPERIMENTAL ALLERGY

The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism

(2012) Maximilian P.A. Salm et al.   GENOME RESEARCH

Genomic copy number alterations associated with the early brain metastasis of non-small cell lung cancer

(2012) HYE WON LEE et al.   INTERNATIONAL JOURNAL OF ONCOLOGY

Detectable clonal mosaicism and its relationship to aging and cancer

(2012) Kevin B Jacobs et al.   NATURE GENETICS

Adaptation to Aridity in the Malaria Mosquito Anopheles gambiae: Chromosomal Inversion Polymorphism and Body Size Influence Resistance to Desiccation

(2012) Caroline Fouet et al.   PLoS One

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

(2011) Juan R González et al.   BMC BIOINFORMATICS

A multilevel model to address batch effects in copy number estimation using SNP arrays

(2010) R. B. Scharpf et al.   BIOSTATISTICS

R-Gada: a fast and flexible pipeline for copy number analysis in association studies

(2010) Roger Pique-Regi et al.   BMC BIOINFORMATICS

R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips

(2009) M. E. Ritchie et al.   BIOINFORMATICS

Quantifying uncertainty in genotype calls

(2009) Benilton S. Carvalho et al.   BIOINFORMATICS

Joint effect of obesity and TNFA variability on asthma: two international cohort studies

(2009) F. Castro-Giner et al.   EUROPEAN RESPIRATORY JOURNAL

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE

Modeling genetic inheritance of copy number variations

(2008) Kai Wang et al.   NUCLEIC ACIDS RESEARCH