Digital Genotyping of Macrosatellites and Multicopy Genes Reveals Novel Biological Functions Associated with Copy Number Variation of Large Tandem Repeats

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2

(2013) Christine Tyson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-Wide Variation of Cytosine Modifications Between European and African Populations and the Implications for Complex Traits

(2013) Erika L. Moen et al.   GENETICS

Direct Visualization of the Highly Polymorphic RNU2 Locus in Proximity to the BRCA1 Gene

(2013) Chloé Tessereau et al.   PLoS One

A beta-mixture quantile normalization method for correcting probe design bias in Illumina Infinium 450 k DNA methylation data

(2012) Andrew E. Teschendorff et al.   BIOINFORMATICS

lobSTR: A short tandem repeat profiler for personal genomes

(2012) Melissa Gymrek et al.   GENOME RESEARCH

Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB

(2012) Christelle Borel et al.   HUMAN MUTATION

 -defensin Genomic Copy Number Is Associated With HIV Load and Immune Reconstitution in Sub-Saharan Africans

(2012) R. J. Hardwick et al.   JOURNAL OF INFECTIOUS DISEASES

Association of β-Defensin Copy Number and Psoriasis in Three Cohorts of European Origin

(2012) Philip E. Stuart et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A direct characterization of human mutation based on microsatellites

(2012) James X Sun et al.   NATURE GENETICS

Estimating the human mutation rate using autozygosity in a founder population

(2012) Catarina D Campbell et al.   NATURE GENETICS

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles

(2012) Gareth Highnam et al.   NUCLEIC ACIDS RESEARCH

Differential Evolution of MAGE Genes Based on Expression Pattern and Selection Pressure

(2012) Qi Zhao et al.   PLoS One

Copy Number Variation of Multiple Genes at Rhg1 Mediates Nematode Resistance in Soybean

(2012) D. E. Cook et al.   SCIENCE

Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders

(2011) Danielle Carpenter et al.   BMC GENOMICS

Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres

(2011) Dan Hasson et al.   CHROMOSOMA

Facioscapulohumeral muscular dystrophy

(2011) Jeffrey M. Statland et al.   CURRENT OPINION IN NEUROLOGY

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47

(2011) Judit Balog et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia

(2011) Robert J. Hardwick et al.   HUMAN MUTATION

Determination of Beta-Defensin Genomic Copy Number in Different Populations: A Comparison of Three Methods

(2011) Peder Fode et al.   PLoS One

Characterization of DXZ4 conservation in primates implies important functional roles for CTCF binding, array expression and tandem repeat organization on the X chromosome

(2011) Christine R McLaughlin et al.   GENOME BIOLOGY

Editorial: β-Defensins and Crohn's Disease: Confusion From Counting Copies

(2010) Edward J Hollox   AMERICAN JOURNAL OF GASTROENTEROLOGY

Variable Tandem Repeats Accelerate Evolution of Coding and Regulatory Sequences

(2010) Rita Gemayel et al.   Annual Review of Genetics

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease

(2010) Marian C. Aldhous et al.   HUMAN MOLECULAR GENETICS

Transcriptome genetics using second generation sequencing in a Caucasian population

(2010) Stephen B. Montgomery et al.   NATURE

Understanding mechanisms underlying human gene expression variation with RNA sequencing

(2010) Joseph K. Pickrell et al.   NATURE

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

A paucity of heterochromatin at functional human neocentromeres

(2010) Alicia Alonso et al.   Epigenetics & Chromatin

Association of Higher DEFB4 Genomic Copy Number With Crohn's Disease

(2009) Robert W Bentley et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

(2009) Donald F. Conrad et al.   NATURE

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Reply to: “CCL3L1 and HIV/AIDS susceptibility” and “Experimental aspects of copy number variant assays at CCL3L1”

(2009) Weijing He et al.   NATURE MEDICINE

Gene copy number: learning to count past two

(2009) Sadeep Shrestha et al.   NATURE MEDICINE

Experimental aspects of copy number variant assays at CCL3L1

(2009) Sarah F Field et al.   NATURE MEDICINE

CCL3L1 and HIV/AIDS susceptibility

(2009) Thomas J Urban et al.   NATURE MEDICINE

CCL3L1 and HIV/AIDS susceptibility

(2009) Tanmoy Bhattacharya et al.   NATURE MEDICINE

Unstable Tandem Repeats in Promoters Confer Transcriptional Evolvability

(2009) M. D. Vinces et al.   SCIENCE

lumi: a pipeline for processing Illumina microarray

(2008) P. Du et al.   BIOINFORMATICS

Analysis of the largest tandemly repeated DNA families in the human genome

(2008) Peter E Warburton et al.   BMC GENOMICS

EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates

(2008) A. J. Vilella et al.   GENOME RESEARCH

Identification of common genetic variants that account for transcript isoform variation between human populations

(2008) Wei Zhang et al.   HUMAN GENETICS

Direct multiplexed measurement of gene expression with color-coded probe pairs

(2008) Gary K Geiss et al.   NATURE BIOTECHNOLOGY