Discovery of common and rare genetic risk variants for colorectal cancer

Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors

(2018) Jihyoun Jeon et al.   GASTROENTEROLOGY

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

(2018) Stephanie L Schmit et al.   JNCI-Journal of the National Cancer Institute

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

(2018) Stephanie L Schmit et al.   JNCI-Journal of the National Cancer Institute

Transforming Growth Factor β Superfamily Signaling in Development of Colorectal Cancer

(2017) Barbara Jung et al.   GASTROENTEROLOGY

Hypoxia-inducible factor 2α (HIF-2α) promotes colon cancer growth by potentiating Yes-associated protein 1 (YAP1) activity

(2017) Xiaoya Ma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Association analysis identifies 65 new breast cancer risk loci

(2017) Kyriaki Michailidou et al.   NATURE

Synthetic essentiality of chromatin remodelling factor CHD1 in PTEN-deficient cancer

(2017) Di Zhao et al.   NATURE

Topologically associating domains are ancient features that coincide with Metazoan clusters of extreme noncoding conservation

(2017) Nathan Harmston et al.   Nature Communications

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

(2017) Yadav Sapkota et al.   Nature Communications

Somatic Superenhancer Duplications and Hotspot Mutations Lead to Oncogenic Activation of the KLF5 Transcription Factor

(2017) Xiaoyang Zhang et al.   Cancer Discovery

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

(2016) Christopher I. Amos et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Guidance for the utility of linear models in meta-analysis of genetic association studies of binary phenotypes

(2016) James P Cook et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk

(2016) Chenjie Zeng et al.   GASTROENTEROLOGY

Variation at 2q35 (PNKDandTMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

(2016) Giulia Orlando et al.   HUMAN MOLECULAR GENETICS

Telomere structure and maintenance gene variants and risk of five cancer types

(2016) Sara Karami et al.   INTERNATIONAL JOURNAL OF CANCER

Genomics is failing on diversity

(2016) Alice B. Popejoy et al.   NATURE

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

A spectral approach integrating functional genomic annotations for coding and noncoding variants

(2016) Iuliana Ionita-Laza et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma

(2016) Marios Giannakis et al.   Cell Reports

A Model to Determine Colorectal Cancer Risk Using Common Genetic Susceptibility Loci

(2015) Li Hsu et al.   GASTROENTEROLOGY

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

(2015) Goo Jun et al.   GENOME RESEARCH

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

Identification of focally amplified lineage-specific super-enhancers in human epithelial cancers

(2015) Xiaoyang Zhang et al.   NATURE GENETICS

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

(2015) Jian Yang et al.   NATURE GENETICS

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

(2015) Lavinia Paternoster et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease

(2015) Loukas Moutsianas et al.   PLoS Genetics

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

Identification of a melanoma susceptibility locus and somatic mutation inTET2

(2014) Fengju Song et al.   CARCINOGENESIS

The Shh Receptor Boc Promotes Progression of Early Medulloblastoma to Advanced Tumors

(2014) Frédéric Mille et al.   DEVELOPMENTAL CELL

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

(2014) N. Whiffin et al.   HUMAN MOLECULAR GENETICS

Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012

(2014) Jacques Ferlay et al.   INTERNATIONAL JOURNAL OF CANCER

RGMb is a novel binding partner for PD-L2 and its engagement with PD-L2 promotes respiratory tolerance

(2014) Yanping Xiao et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk

(2014) Ben Zhang et al.   NATURE GENETICS

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

(2014) Martin Kircher et al.   NATURE GENETICS

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

(2014) Ali Amin Al Olama et al.   NATURE GENETICS

The contribution of genetic variants to disease depends on the ruler

(2014) John S. Witte et al.   NATURE REVIEWS GENETICS

Dosage-Dependent Regulation of Pancreatic Cancer Growth and Angiogenesis by Hedgehog Signaling

(2014) Esha Mathew et al.   Cell Reports

Haplotype Estimation Using Sequencing Reads

(2013) Olivier Delaneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long noncoding RNAs and the genetics of cancer

(2013) S W Cheetham et al.   BRITISH JOURNAL OF CANCER

A Unified Mixed-Effects Model for Rare-Variant Association in Sequencing Studies

(2013) Jianping Sun et al.   GENETIC EPIDEMIOLOGY

Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits

(2013) O. Corradin et al.   GENOME RESEARCH

ANRIL: Molecular Mechanisms and Implications in Human Health

(2013) Ada Congrains et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Regulation of Hypoxia-inducible Factor 1α (HIF-1α) by Lysophosphatidic Acid Is Dependent on Interplay between p53 and Krüppel-like Factor 5

(2013) Sei-Jung Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

(2013) Rosalind A Eeles et al.   NATURE GENETICS

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

(2013) Kyriaki Michailidou et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Clustering of Tissue-Specific Sub-TADs Accompanies the Regulation of HoxA Genes in Developing Limbs

(2013) Soizik Berlivet et al.   PLoS Genetics

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

(2012) Ulrike Peters et al.   GASTROENTEROLOGY

ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia

(2012) S. G. Landt et al.   GENOME RESEARCH

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

(2012) Maria N. Timofeeva et al.   HUMAN MOLECULAR GENETICS

Recurrent R-spondin fusions in colon cancer

(2012) Somasekar Seshagiri et al.   NATURE

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

(2012)   NATURE

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

(2012) Malcolm G Dunlop et al.   NATURE GENETICS

Bayesian refinement of association signals for 14 loci in 3 common diseases

(2012) Julian B Maller et al.   NATURE GENETICS

Genome-wide association analyses in east Asians identify new susceptibility loci for colorectal cancer

(2012) Wei-Hua Jia et al.   NATURE GENETICS

Safety, Activity, and Immune Correlates of Anti–PD-1 Antibody in Cancer

(2012) Suzanne L. Topalian et al.   NEW ENGLAND JOURNAL OF MEDICINE

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Genomic inflation factors under polygenic inheritance

(2011) Jian Yang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

(2011) Heribert Schunkert et al.   NATURE GENETICS

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Dopamine stabilizes tumor blood vessels by up-regulating angiopoietin 1 expression in pericytes and Kruppel-like factor-2 expression in tumor endothelial cells

(2011) D. Chakroborty et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer

(2011) Ian P. M. Tomlinson et al.   PLoS Genetics

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

The Hippo-YAP pathway in organ size control and tumorigenesis: an updated version

(2010) B. Zhao et al.   GENES & DEVELOPMENT

Quality control and quality assurance in genotypic data for genome-wide association studies

(2010) Cathy C. Laurie et al.   GENETIC EPIDEMIOLOGY

FEN1 Ensures Telomere Stability by Facilitating Replication Fork Re-initiation

(2010) Abhishek Saharia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

(2010) Richard S Houlston et al.   NATURE GENETICS

Variance component model to account for sample structure in genome-wide association studies

(2010) Hyun Min Kang et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits

(2010) Ayellet V. Segrè et al.   PLoS Genetics

Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies

(2009) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

(2009) K. D. Pruitt et al.   GENOME RESEARCH

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

(2009) Rosalind A Eeles et al.   NATURE GENETICS

Genome-wide association study identifies three loci associated with melanoma risk

(2009) D Timothy Bishop et al.   NATURE GENETICS

Genome-wide association study identifies five susceptibility loci for glioma

(2009) Sanjay Shete et al.   NATURE GENETICS

Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers

(2009) K. Guda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Long-Range LD Can Confound Genome Scans in Admixed Populations

(2008) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bias-reduced estimators and confidence intervals for odds ratios in genome-wide association studies

(2008) H. Zhong et al.   BIOSTATISTICS

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

(2008)   NATURE GENETICS

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21

(2008) Albert Tenesa et al.   NATURE GENETICS

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

(2008) Ian PM Tomlinson et al.   NATURE GENETICS