Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

(2016) Daria Wojtal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

(2016) William S. Oetting et al.   HUMAN MUTATION

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Duchenne Muscular Dystrophy: From Diagnosis to Therapy

(2015) Maria Falzarano et al.   MOLECULES

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

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

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

Genotype-based databases for variants causing rare diseases

(2014) Barbara Lanthaler et al.   GENE

Clinically Relevant Variants - Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society

(2014) Christine M. Stanley et al.   HUMAN MUTATION

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

COSMIC (Cohort Studies of Memory in an International Consortium): An international consortium to identify risk and protective factors and biomarkers of cognitive ageing and dementia in diverse ethnic and sociocultural groups

(2013) Perminder S Sachdev et al.   BMC Neurology

Clinical genomics information management software linking cancer genome sequence and clinical decisions

(2013) Stuart Watt et al.   GENOMICS

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

(2013) Lora J.H. Bean et al.   HUMAN MUTATION

Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants

(2013) Thomas A. Peterson et al.   JOURNAL OF MOLECULAR BIOLOGY

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

(2013) Judy Savige et al.   PEDIATRIC NEPHROLOGY

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing

(2012) I. Medina et al.   NUCLEIC ACIDS RESEARCH

Challenges in clinical genomics

(2012) Daniel G MacArthur   Genome Medicine

Exploring the functional consequences of genomic variation: The 2010 Human Genome Variation Society Scientific Meeting

(2011) William S. Oetting   HUMAN MUTATION

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

(2011) Min Pan et al.   HUMAN MUTATION

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

(2010) S. A. Forbes et al.   NUCLEIC ACIDS RESEARCH

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

(2009) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE