相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists
Somak Roy et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2018)
Consistency of BRCA1 and BRCA2 Variant Classification Among Clinicla Dignostic Laboratories
Stephen E. Lincoln et al.
JCO PRECISION ONCOLOGY (2017)
A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories
Gillian Ellison et al.
BRITISH JOURNAL OF CANCER (2017)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
New challenges for BRCA testing: a view from the diagnostic laboratory
Andrew J. Wallace
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
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)
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases
Sandrine Caputo et al.
NUCLEIC ACIDS RESEARCH (2012)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)