4.8 Article

The impact of structural variation on human gene expression

Related references

Note: Only part of the references are listed.
Article Biochemical Research Methods

Fast and efficient QTL mapper for thousands of molecular phenotypes

Halit Ongen et al.

BIOINFORMATICS (2016)

Article Genetics & Heredity

Abundant contribution of short tandem repeats to gene expression variation in humans

Melissa Gymrek et al.

NATURE GENETICS (2016)

Article Biochemistry & Molecular Biology

Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

Simon N. Stacey et al.

HUMAN MOLECULAR GENETICS (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Medicine, Research & Experimental

Associations Between PADI4 Gene Polymorphisms and Rheumatoid Arthritis: An Updated Meta-analysis

Xiao-ke Yang et al.

ARCHIVES OF MEDICAL RESEARCH (2015)

Article Multidisciplinary Sciences

An integrated map of structural variation in 2,504 human genomes

Peter H. Sudmant et al.

NATURE (2015)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Article Biochemical Research Methods

SpeedSeq: ultra-fast personal genome analysis and interpretation

Colby Chiang et al.

NATURE METHODS (2015)

Article Multidisciplinary Sciences

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Kristin G. Ardlie et al.

SCIENCE (2015)

Article Mathematical & Computational Biology

DENdb: database of integrated human enhancers

Haitham Ashoor et al.

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2015)

Article Biochemistry & Molecular Biology

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

Nicholas J. Cooper et al.

HUMAN MOLECULAR GENETICS (2015)

Article Genetics & Heredity

Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants

Xin Li et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Genetics & Heredity

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

Alexander Gusev et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Genetics & Heredity

Identifying Causal Variants at Loci with Multiple Signals of Association

Farhad Hormozdiari et al.

GENETICS (2014)

Article Biochemistry & Molecular Biology

Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals

Alexis Battle et al.

GENOME RESEARCH (2014)

Article Multidisciplinary Sciences

Genetics of rheumatoid arthritis contributes to biology and drug discovery

Yukinori Okada et al.

NATURE (2014)

Article Multidisciplinary Sciences

Comparative analysis of metazoan chromatin organization

Joshua W. K. Ho et al.

NATURE (2014)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Article Biochemistry & Molecular Biology

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

Danielle Welter et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Genetics & Heredity

Cis and Trans Effects of Human Genomic Variants on Gene Expression

Julien Bryois et al.

PLOS GENETICS (2014)

Article Biotechnology & Applied Microbiology

LUMPY: a probabilistic framework for structural variant discovery

Ryan M. Layer et al.

GENOME BIOLOGY (2014)

Article Biotechnology & Applied Microbiology

FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer

Yao Fu et al.

GENOME BIOLOGY (2014)

Review Genetics & Heredity

Beyond GWASs: Illuminating the Dark Road from Association to Function

Stacey L. Edwards et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Multidisciplinary Sciences

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen et al.

NATURE (2013)

Review Genetics & Heredity

Phenotypic impact of genomic structural variation: insights from and for human disease

Joachim Weischenfeldt et al.

NATURE REVIEWS GENETICS (2013)

Article Biochemical Research Methods

RNA-SeQC: RNA-seq metrics for quality control and process optimization

David S. DeLuca et al.

BIOINFORMATICS (2012)

Article Multidisciplinary Sciences

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham et al.

NATURE (2012)

Review Genetics & Heredity

Characterizing complex structural variation in germline and somatic genomes

Aaron R. Quinlan et al.

TRENDS IN GENETICS (2012)

Article Genetics & Heredity

GCTA: A Tool for Genome-wide Complex Trait Analysis

Jian Yang et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Biochemical Research Methods

The variant call format and VCFtools

Petr Danecek et al.

BIOINFORMATICS (2011)

Article Genetics & Heredity

Genome-wide association study identifies three new melanoma susceptibility loci

Jennifer H. Barrett et al.

NATURE GENETICS (2011)

Article Genetics & Heredity

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

Robert E. Handsaker et al.

NATURE GENETICS (2011)

Review Genetics & Heredity

APPLICATIONS OF NEXT-GENERATION SEQUENCING Genome structural variation discovery and genotyping

Can Alkan et al.

NATURE REVIEWS GENETICS (2011)

Article Biochemical Research Methods

BEDTools: a flexible suite of utilities for comparing genomic features

Aaron R. Quinlan et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

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

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Multidisciplinary Sciences

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

Donald F. Conrad et al.

NATURE (2010)

Article Biochemical Research Methods

TopHat: discovering splice junctions with RNA-Seq

Cole Trapnell et al.

BIOINFORMATICS (2009)

Article Multidisciplinary Sciences

Relative impact of nucleotide and copy number variation on gene expression phenotypes

Barbara E. Stranger et al.

SCIENCE (2007)

Article Biotechnology & Applied Microbiology

GENCODE: producing a reference annotation for ENCODE

Jennifer Harrow et al.

GENOME BIOLOGY (2006)

Article Biochemistry & Molecular Biology

The human genome browser at UCSC

WJ Kent et al.

GENOME RESEARCH (2002)