Prioritization and functional assessment of noncoding variants associated with complex diseases

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

(2017) Tao Long et al.   NATURE GENETICS

Genome-wide analyses identify common variants associated with macular telangiectasia type 2

(2017) Thomas S Scerri et al.   NATURE GENETICS

Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data

(2017) Yi-Fei Huang et al.   NATURE GENETICS

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

(2016) Serena Nik-Zainal et al.   NATURE

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

(2016) Monkol Lek et al.   NATURE

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

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

Predicting the impact of genomic variation

(2016) Vesna Todorovic   NATURE METHODS

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

(2016) Arjun Krishnan et al.   NATURE NEUROSCIENCE

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

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

(2015) Hashem A. Shihab et al.   BIOINFORMATICS

Non-coding genetic variants in human disease: Figure 1.

(2015) Feng Zhang et al.   HUMAN MOLECULAR GENETICS

Whole genomes redefine the mutational landscape of pancreatic cancer

(2015) Nicola Waddell et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

GWASdb v2: an update database for human genetic variants identified by genome-wide association studies

(2015) Mulin Jun Li et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

New loci and coding variants confer risk for age-related macular degeneration in East Asians

(2015) Ching-Yu Cheng et al.   Nature Communications

A Statistical Framework to Predict Functional Non-Coding Regions in the Human Genome Through Integrated Analysis of Annotation Data

(2015) Qiongshi Lu et al.   Scientific Reports

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

(2014) Daniel Quang et al.   BIOINFORMATICS

How important are rare variants in common disease?

(2014) A. Saint Pierre et al.   Briefings in Functional Genomics

An atlas of active enhancers across human cell types and tissues

(2014) Robin Andersson et al.   NATURE

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

(2014) Martin Kircher et al.   NATURE GENETICS

Functional annotation of noncoding sequence variants

(2014) Graham R S Ritchie et al.   NATURE METHODS

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

GRASP v2.0: an update on the Genome-Wide Repository of Associations between SNPs and phenotypes

(2014) John D. Eicher et al.   NUCLEIC ACIDS RESEARCH

Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls

(2014) Junho Kim et al.   Scientific Reports

Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis

(2014) Wan Ling Wong et al.   Lancet Global Health

Type 2 diabetes in East Asians: similarities and differences with populations in Europe and the United States

(2013) Ronald C.W. Ma et al.   Annals of the New York Academy of Sciences

International Variations and Trends in Testicular Cancer Incidence and Mortality

(2013) Ariana Znaor et al.   EUROPEAN UROLOGY

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans

(2013) Mingfeng Zhang et al.   HUMAN MOLECULAR GENETICS

The Relationship Between FST and the Frequency of the Most Frequent Allele

(2012) M. Jakobsson et al.   GENETICS

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

Genetics of type 2 diabetes in European populations

(2012) Qibin QI et al.   Journal of Diabetes

Classification of human genomic regions based on experimentally determined binding sites of more than 100 transcription-related factors

(2012) Kevin Y Yip et al.   GENOME BIOLOGY

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

Integrated genomic analyses of ovarian carcinoma

(2011) D. Bell et al.   NATURE

A decade’s perspective on DNA sequencing technology

(2011) Elaine R. Mardis   NATURE

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

International Trends in the Incidence of Testicular Cancer, 1973-2002

(2010) V. M. Chia et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

International network of cancer genome projects

(2010) Thomas J. Hudson (Chairperson) et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits

(2010) Nicholas Eriksson et al.   PLoS Genetics

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Is E148Q a Benign Polymorphism or a Disease-causing Mutation?

(2009) D. MAREK-YAGEL et al.   JOURNAL OF RHEUMATOLOGY

Racial Disparities in Cancer Survival Among Randomized Clinical Trials Patients of the Southwest Oncology Group

(2009) Kathy S. Albain et al.   JNCI-Journal of the National Cancer Institute

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs

(2009) Giorgio Grillo et al.   NUCLEIC ACIDS RESEARCH

PlasmoGF: an integrated system for comparative genomics and phylogenetic analysis of Plasmodium gene families

(2008) X. Xu et al.   BIOINFORMATICS

The YH database: the first Asian diploid genome database

(2008) G. Li et al.   NUCLEIC ACIDS RESEARCH