Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Paralogous annotation of disease-causing variants in long QT syndrome genes

(2012) James S. Ware et al.   HUMAN MUTATION

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

dbVar and DGVa: public archives for genomic structural variation

(2012) Ilkka Lappalainen et al.   NUCLEIC ACIDS RESEARCH

Genenames.org: the HGNC resources in 2013

(2012) Kristian A. Gray et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

Alternative ferritin mRNA translation via internal initiation

(2012) A. Daba et al.   RNA

Tracking and coordinating an international curation effort for the CCDS Project

(2012) R. A. Harte et al.   Database-The Journal of Biological Databases and Curation

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

(2011) Fleur S van Dijk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Guidelines for establishing locus specific databases

(2011) Mauno Vihinen et al.   HUMAN MUTATION

Curating gene variant databases (LSDBs): Toward a universal standard

(2011) Jacopo Celli 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

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

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

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Fast and efficient searching of biological data resources--using EB-eye

(2010) F. Valentin et al.   BRIEFINGS IN BIOINFORMATICS

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

Ensembl 2011

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

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

(2010) Raymond Dalgleish et al.   Genome Medicine

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

(2009) K. D. Pruitt et al.   GENOME RESEARCH

p53 and little brother p53/47: linking IRES activities with protein functions

(2009) R Grover et al.   ONCOGENE