Intronic CNVs and gene expression variation in human populations

High-resolution comparative analysis of great ape genomes

(2018) Zev N. Kronenberg et al.   SCIENCE

RNA velocity of single cells

(2018) Gioele La Manno et al.   NATURE

De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations

(2018) Karen H. Y. Wong et al.   Nature Communications

The impact of structural variation on human gene expression

(2017) Colby Chiang et al.   NATURE GENETICS

Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters

(2016) Biola M. Javierre et al.   CELL

The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery

(2016) Hendrik G. Stunnenberg et al.   CELL

From Loci to Biology

(2016) Sylvia T. Nurnberg et al.   CIRCULATION RESEARCH

Intron Length Coevolution across Mammalian Genomes

(2016) Peter A. Keane et al.   MOLECULAR BIOLOGY AND EVOLUTION

MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search

(2016) Noa Rappaport et al.   NUCLEIC ACIDS RESEARCH

A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome

(2016) Anthony D. Schmitt et al.   Cell Reports

High-Resolution CRISPR Screens Reveal Fitness Genes and Genotype-Specific Cancer Liabilities

(2015) Traver Hart et al.   CELL

Association of the LINGO2-related SNP rs10968576 with body mass in a cohort of elderly Swedes

(2015) Mathias Rask-Andersen et al.   MOLECULAR GENETICS AND GENOMICS

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

(2015) Peter H. Sudmant et al.   NATURE

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

Ensembl 2016

(2015) Andrew Yates et al.   NUCLEIC ACIDS RESEARCH

Gene essentiality and synthetic lethality in haploid human cells

(2015) V. A. Blomen et al.   SCIENCE

Global diversity, population stratification, and selection of human copy-number variation

(2015) Peter H. Sudmant et al.   SCIENCE

Identification and characterization of essential genes in the human genome

(2015) T. Wang et al.   SCIENCE

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

(2015) Alexej Abyzov et al.   Nature Communications

The Ensembl Regulatory Build

(2015) Daniel R Zerbino et al.   GENOME BIOLOGY

Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans

(2014) Konstantin Y. Popadin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transcript Length Mediates Developmental Timing of Gene Expression Across Drosophila

(2014) Carlo G. Artieri et al.   MOLECULAR BIOLOGY AND EVOLUTION

STRING v10: protein–protein interaction networks, integrated over the tree of life

(2014) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

The Earliest Transcribed Zygotic Genes Are Short, Newly Evolved, and Different across Species

(2014) Patricia Heyn et al.   Cell Reports

Evolution of Alu Elements toward Enhancers

(2014) Ming Su et al.   Cell Reports

Late-replicating CNVs as a source of new genes

(2014) D. Juan et al.   Biology Open

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

(2013) Ekta Khurana et al.   SCIENCE

Human housekeeping genes, revisited

(2013) Eli Eisenberg et al.   TRENDS IN GENETICS

When epigenetics meets alternative splicing: the roles of DNA methylation and GC architecture

(2013) Sahar Gelfman et al.   Epigenomics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Younger Genes Are Less Likely to Be Essential than Older Genes, and Duplicates Are Less Likely to Be Essential than Singletons of the Same Age

(2012) W.-H. Chen et al.   MOLECULAR BIOLOGY AND EVOLUTION

APPRIS: annotation of principal and alternative splice isoforms

(2012) Jose Manuel Rodriguez et al.   NUCLEIC ACIDS RESEARCH

An intronic ABCA3 mutation that is responsible for respiratory disease

(2012) Amit Agrawal et al.   PEDIATRIC RESEARCH

Differential GC Content between Exons and Introns Establishes Distinct Strategies of Splice-Site Recognition

(2012) Maayan Amit et al.   Cell Reports

The Function of Introns

(2012) Michal Chorev et al.   Frontiers in Genetics

Evidence for intron length conservation in a set of mammalian genes associated with embryonic development

(2011) Cathal Seoighe et al.   BMC BIOINFORMATICS

Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project

(2011) Xinmeng Jasmine Mu et al.   NUCLEIC ACIDS RESEARCH

Systematic investigation of genetic vulnerabilities across cancer cell lines reveals lineage-specific dependencies in ovarian cancer

(2011) H. W. Cheung et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Essential Gene Profiles in Breast, Pancreatic, and Ovarian Cancer Cells

(2011) Richard Marcotte et al.   Cancer Discovery

Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome

(2010) Y.-F. Lo et al.   Clinical Journal of the American Society of Nephrology

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in eQTL Studies

(2010) Oliver Stegle et al.   PLoS Computational Biology

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

(2009) Da Wei Huang et al.   Nature Protocols

Intron Delays and Transcriptional Timing during Development

(2008) Ian A. Swinburne et al.   DEVELOPMENTAL CELL

The effect of intron length on exon creation ratios during the evolution of mammalian genomes

(2008) M. Roy et al.   RNA

Profiling Essential Genes in Human Mammary Cells by Multiplex RNAi Screening

(2008) J. M. Silva et al.   SCIENCE

Rapidly regulated genes are intron poor

(2008) Daniel C. Jeffares et al.   TRENDS IN GENETICS