Guidelines for establishing locus specific databases

WAVe: web analysis of the variome

(2011) Pedro Lopes et al.   HUMAN MUTATION

Describing structural changes by extending HGVS sequence variation nomenclature

(2011) Peter E.M. Taschner 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

MutaDATABASE: a centralized and standardized DNA variation database

(2011) Sherri Bale et al.   NATURE BIOTECHNOLOGY

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

(2011) Belinda Giardine et al.   NATURE GENETICS

Locus-specific database domain and data content analysis: evolution and content maturation toward clinical usea

(2010) Christina Mitropoulou et al.   HUMAN MUTATION

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

(2010) Sue Povey et al.   HUMAN MUTATION

How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

(2010) Maija R.J. Kohonen-Corish et al.   HUMAN MUTATION

The ribosomal basis of diamond-blackfan anemia: mutation and database update

(2010) Ilenia Boria et al.   HUMAN MUTATION

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

(2010) Raymond Dalgleish et al.   Genome Medicine

Elements of morphology: Introduction

(2009) Judith E. Allanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

(2009) Richard G H Cotton et al.   GENETICS IN MEDICINE

Sharing data between LSDBs and central repositories

(2009) Johan T. den Dunnen et al.   HUMAN MUTATION

The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation

(2009) Anthony J. Brookes et al.   HUMAN MUTATION

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

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

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration

(2008) M. Olivier et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Human Variome Microattribution Reviews

(2007)   NATURE GENETICS