Transcriptomic signatures across human tissues identify functional rare genetic variation

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

(2020) Thorunn A. Olafsdottir et al.   Nature Communications

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Microdeletion in a pseudogene identified in a patient with high anandamide concentrations and pain insensitivity

(2019) Abdella M. Habib et al.   BRITISH JOURNAL OF ANAESTHESIA

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

(2019) Laure Frésard et al.   NATURE MEDICINE

Ultrarare variants drive substantial cis heritability of human gene expression

(2019) Ryan D. Hernandez et al.   NATURE GENETICS

Fusion transcripts: Unexploited vulnerabilities in cancer?

(2019) Carla Neckles et al.   Wiley Interdisciplinary Reviews-RNA

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

(2018) Sidi Zhang et al.   GENOME RESEARCH

Paediatric genomics: diagnosing rare disease in children

(2018) Caroline F. Wright et al.   NATURE REVIEWS GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

(2018) Derek Klarin et al.   NATURE GENETICS

PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools

(2018) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

The Gene Ontology Resource: 20 years and still GOing strong

(2018)   NUCLEIC ACIDS RESEARCH

Co-expression networks reveal the tissue-specific regulation of transcription and splicing

(2017) Ashis Saha et al.   GENOME RESEARCH

The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology

(2017) Eugene J. Gardner et al.   GENOME RESEARCH

The impact of rare variation on gene expression across tissues

(2017) Xin Li et al.   NATURE

Population- and individual-specific regulatory variation in Sardinia

(2017) Mauro Pala et al.   NATURE GENETICS

Annotation-free quantification of RNA splicing using LeafCutter

(2017) Yang I. Li et al.   NATURE GENETICS

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

(2017) Dirk Smith et al.   PLoS Genetics

Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization

(2017) Xiaoquan Wen et al.   PLoS Genetics

Rare coding variants pinpoint genes that control human hematological traits

(2017) Abdou Mousas et al.   PLoS Genetics

EML proteins in microtubule regulation and human disease

(2016) Andrew M. Fry et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay

(2016) Ryan Tewhey et al.   CELL

Million Veteran Program: A mega-biobank to study genetic influences on health and disease

(2016) John Michael Gaziano et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Regulation of disease-associated gene expression in the 3D genome

(2016) Peter Hugo Lodewijk Krijger et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

RNA splicing is a primary link between genetic variation and disease

(2016) Yang I. Li et al.   SCIENCE

Gene regulation at a distance: From remote enhancers to 3D regulatory ensembles

(2016) François Spitz   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

ETS family protein GABP is a novel co-factor strongly associated with genomic YY1 binding sites in various cell lines

(2015) Taijun Han et al.   Genes & Genomics

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

Aberrant Gene Expression in Humans

(2015) Yong Zeng et al.   PLoS Genetics

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

(2014) Xin Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2014) Martin Kircher et al.   NATURE GENETICS

Impact of regulatory variation from RNA to protein

(2014) A. Battle et al.   SCIENCE

A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness

(2014) Jared O'Connell et al.   PLoS Genetics

Genomic View of Bipolar Disorder Revealed by Whole Genome Sequencing in a Genetic Isolate

(2014) Benjamin Georgi et al.   PLoS Genetics

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Decoding asthma: Translating genetic variation in IL33 and IL1RL1 into disease pathophysiology

(2013) Néomi S. Grotenboer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2012) David S. DeLuca et al.   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses

(2012) Oliver Stegle et al.   Nature Protocols

Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

(2012) A. Keinan et al.   SCIENCE

FLASH: fast length adjustment of short reads to improve genome assemblies

(2011) T. Magoc et al.   BIOINFORMATICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes

(2011) Stephen B. Montgomery et al.   PLoS Genetics

A streamlined protocol for emulsion polymerase chain reaction and subsequent purification

(2010) Tatjana Schütze et al.   ANALYTICAL BIOCHEMISTRY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Enzymatic assembly of DNA molecules up to several hundred kilobases

(2009) Daniel G Gibson et al.   NATURE METHODS

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics