The humankind genome: from genetic diversity to the origin of human diseases

Mapping Human Epigenomes

(2013) Chloe M. Rivera et al.   CELL

lincRNAs: Genomics, Evolution, and Mechanisms

(2013) Igor Ulitsky et al.   CELL

Transcriptomics in the RNA-seq era

(2013) Paul A McGettigan   CURRENT OPINION IN CHEMICAL BIOLOGY

DNA methylation contributes to natural human variation

(2013) H. Heyn et al.   GENOME RESEARCH

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Choosing an animal model for the study of Huntington's disease

(2013) Mahmoud A. Pouladi et al.   NATURE REVIEWS NEUROSCIENCE

Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease

(2013) Georgina Caruana et al.   PLoS One

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering

(2013) Thomas Gaj et al.   TRENDS IN BIOTECHNOLOGY

RNA-dependent DNA endonuclease Cas9 of the CRISPR system: Holy Grail of genome editing?

(2013) Giedrius Gasiunas et al.   TRENDS IN MICROBIOLOGY

Mapping and significance of the mRNA methylome

(2013) Tennille Sibbritt et al.   Wiley Interdisciplinary Reviews-RNA

The mouse pathology ontology, MPATH; structure and applications

(2013) Paul N Schofield et al.   Journal of Biomedical Semantics

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Tools and Approaches for Optogenetics

(2012) Yuan Mei et al.   BIOLOGICAL PSYCHIATRY

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

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

Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers

(2012) Joseph Lachance et al.   CELL

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

(2012) S. C. Doelken et al.   Disease Models & Mechanisms

Towards an encyclopaedia of mammalian gene function: the International Mouse Phenotyping Consortium

(2012) S. D. M. Brown et al.   Disease Models & Mechanisms

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Personal and population genomics of human regulatory variation

(2012) B. Vernot et al.   GENOME RESEARCH

Linking disease associations with regulatory information in the human genome

(2012) M. A. Schaub et al.   GENOME RESEARCH

The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression

(2012) T. Derrien et al.   GENOME RESEARCH

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Genetic and epigenetic contribution to complex traits

(2012) H. Kilpinen et al.   HUMAN MOLECULAR GENETICS

New routes for transgenesis of the mouse

(2012) José E. Belizário et al.   JOURNAL OF APPLIED GENETICS

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

(2012) Abdel Ayadi et al.   MAMMALIAN GENOME

Landscape of transcription in human cells

(2012) Sarah Djebali et al.   NATURE

The microcosmos of cancer

(2012) Amaia Lujambio et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

The accessible chromatin landscape of the human genome

(2012) Robert E. Thurman et al.   NATURE

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

(2012)   NATURE

Architecture of the human regulatory network derived from ENCODE data

(2012) Mark B. Gerstein et al.   NATURE

The disease and gene annotations (DGA): an annotation resource for human disease

(2012) Kai Peng et al.   NUCLEIC ACIDS RESEARCH

Improving Disease Gene Prioritization by Comparing the Semantic Similarity of Phenotypes in Mice with Those of Human Diseases

(2012) Anika Oellrich et al.   PLoS One

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

(2012) Gholson J Lyon et al.   Genome Medicine

Challenges in studying genomic structural variant formation mechanisms: The short-read dilemma and beyond

(2011) Megumi Onishi-Seebacher et al.   BIOESSAYS

The role of Pax6 in forebrain development

(2011) Petrina A. Georgala et al.   Developmental Neurobiology

The GENCODE exome: sequencing the complete human exome

(2011) Alison J Coffey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Revisiting Mendelian disorders through exome sequencing

(2011) Chee-Seng Ku et al.   HUMAN GENETICS

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

The impact of next-generation sequencing on genomics

(2011) Jun Zhang et al.   Journal of Genetics and Genomics

Studying the epigenome using next generation sequencing

(2011) C. S. Ku et al.   JOURNAL OF MEDICAL GENETICS

Mind the dbGAP: The Application of Data Mining to Identify Biological Mechanisms

(2011) E. C. Wooten et al.   MOLECULAR INTERVENTIONS

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Mouse genomic variation and its effect on phenotypes and gene regulation

(2011) Thomas M. Keane et al.   NATURE

A decade’s perspective on DNA sequencing technology

(2011) Elaine R. Mardis   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Next-generation transcriptome assembly

(2011) Jeffrey A. Martin et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

DISC1-binding proteins in neural development, signalling and schizophrenia

(2011) Nicholas J. Bradshaw et al.   NEUROPHARMACOLOGY

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

(2011) K. D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Disease Ontology: a backbone for disease semantic integration

(2011) L. M. Schriml et al.   NUCLEIC ACIDS RESEARCH

Human Disease Models in Drosophila melanogaster and the Role of the Fly in Therapeutic Drug Discovery

(2011) U. B. Pandey et al.   PHARMACOLOGICAL REVIEWS

Modernizing Reference Genome Assemblies

(2011) Deanna M. Church et al.   PLOS BIOLOGY

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

(2011) Graciana Diez-Roux et al.   PLOS BIOLOGY

The mouse genetics toolkit: revealing function and mechanism

(2011) Louise van der Weyden et al.   GENOME BIOLOGY

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Mapping of disease-associated variants in admixed populations

(2011) Daniel Shriner et al.   GENOME BIOLOGY

Mutation discovery in mice by whole exome sequencing

(2011) Heather Fairfield et al.   GENOME BIOLOGY

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

Copy Number Variations in Schizophrenia: Critical Review and New Perspectives on Concepts of Genetics and Disease

(2010) Anne S. Bassett et al.   AMERICAN JOURNAL OF PSYCHIATRY

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

A window into third-generation sequencing

(2010) E. E. Schadt et al.   HUMAN MOLECULAR GENETICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Advancing RNA-Seq analysis

(2010) Brian J Haas et al.   NATURE BIOTECHNOLOGY

Visualization of image data from cells to organisms

(2010) Thomas Walter et al.   NATURE METHODS

Limitations of next-generation genome sequence assembly

(2010) Can Alkan et al.   NATURE METHODS

Charting histone modifications and the functional organization of mammalian genomes

(2010) Vicky W. Zhou et al.   NATURE REVIEWS GENETICS

Ensembl 2011

(2010) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

Database resources of the National Center for Biotechnology Information

(2010) E. W. Sayers et al.   NUCLEIC ACIDS RESEARCH

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Characterization of Twenty Sequenced Human Genomes

(2010) Kimberly Pelak et al.   PLoS Genetics

Integrating phenotype ontologies across multiple species

(2010) Christopher J Mungall et al.   GENOME BIOLOGY

Towards a comprehensive structural variation map of an individual human genome

(2010) Andy W Pang et al.   GENOME BIOLOGY

Common vs. rare allele hypotheses for complex diseases

(2009) Nicholas J Schork et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group

(2009) S.-M. Ahn et al.   GENOME RESEARCH

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

(2009) K. J. McKernan et al.   GENOME RESEARCH

Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease

(2009) John M. Hancock et al.   MAMMALIAN GENOME

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

A highly annotated whole-genome sequence of a Korean individual

(2009) Jong-Il Kim et al.   NATURE

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

(2009) Donald F. Conrad et al.   NATURE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Stochastic epigenetic variation as a driving force of development, evolutionary adaptation, and disease

(2009) A. P. Feinberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Whole animal imaging

(2009) Gurpreet Singh Sandhu et al.   Wiley Interdisciplinary Reviews-Systems Biology and Medicine

Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation

(2009) Nicole L. Washington et al.   PLOS BIOLOGY

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

A HapMap harvest of insights into the genetics of common disease

(2008) Teri A. Manolio et al.   JOURNAL OF CLINICAL INVESTIGATION

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

The diploid genome sequence of an Asian individual

(2008) Jun Wang et al.   NATURE

RNA-Seq: a revolutionary tool for transcriptomics

(2008) Zhong Wang et al.   NATURE REVIEWS GENETICS

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE