Related references
Note: Only part of the references are listed.Identification of a large set of rare complete human knockouts
Patrick Sulem et al.
NATURE GENETICS (2015)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Guidelines for investigating causality of sequence variants in human disease
D. G. MacArthur et al.
NATURE (2014)
A framework for the interpretation of de novo mutation in human disease
Kaitlin E. Samocha et al.
NATURE GENETICS (2014)
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Catherine A. Brownstein et al.
GENOME BIOLOGY (2014)
An informatics approach to analyzing the incidentalome
Jonathan S. Berg et al.
GENETICS IN MEDICINE (2013)
Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals
Christopher A. Cassa et al.
HUMAN MUTATION (2013)
Sequencing studies in human genetics: design and interpretation
David B. Goldstein et al.
NATURE REVIEWS GENETICS (2013)
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Slave Petrovski et al.
PLOS GENETICS (2013)
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations
Mark Y. Tong et al.
BIOINFORMATICS (2011)