Related references
Note: Only part of the references are listed.Discovery of noncanonical translation initiation sites through mass spectrometric analysis of protein N termini
Chan Hyun Na et al.
GENOME RESEARCH (2018)
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
Sean V. Tavtigian et al.
GENETICS IN MEDICINE (2018)
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation
Bruce D. Gelb et al.
GENETICS IN MEDICINE (2018)
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
Melissa A. Kelly et al.
GENETICS IN MEDICINE (2018)
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
Marina T. DiStefano et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2018)
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
Steven M. Harrison et al.
GENETICS IN MEDICINE (2017)
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Natasha T. Strande et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
Nuala A. O'Leary et al.
NUCLEIC ACIDS RESEARCH (2016)
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M. Amendola et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints
Scott Newman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Effect of predicted protein-truncating genetic variants on the human transcriptome
Manuel A. Rivas et al.
SCIENCE (2015)
TISdb: a database for alternative translation initiation in mammalian cells
Ji Wan et al.
NUCLEIC ACIDS RESEARCH (2014)
New Universal Rules of Eukaryotic Translation Initiation Fidelity
Hadas Zur et al.
PLOS COMPUTATIONAL BIOLOGY (2013)
Global mapping of translation initiation sites in mammalian cells at single-nucleotide resolution
Sooncheol Lee et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Leucine-tRNA Initiates at CUG Start Codons for Protein Synthesis and Presentation by MHC Class I
Shelley R. Starck et al.
SCIENCE (2012)
Alternative translation start sites are conserved in eukaryotic genomes
Georgii A. Bazykin et al.
NUCLEIC ACIDS RESEARCH (2011)
AceView: a comprehensive cDNA-supported gene and transcripts annotation
Danielle Thierry-Mieg et al.
GENOME BIOLOGY (2006)
Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
BP Lewis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Share Paper
