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。Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers
Giulia Federici et al.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH (2020)
LEAP: Using machine learning to support variant classification in a clinical setting
Carmen Lai et al.
HUMAN MUTATION (2020)
High-Throughput Reclassification of SCN5A Variants
Andrew M. Glazer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period
Lisa Esterling et al.
JCO PRECISION ONCOLOGY (2020)
Dynamic and explainable machine learning prediction of mortality in patients in the intensive care unit: a retrospective study of high-frequency data in electronic patient records
Hans-Christian Thorsen-Meyer et al.
LANCET DIGITAL HEALTH (2020)
The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
Michael Watson
GENETICS IN MEDICINE (2019)
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Michael T. Parsons et al.
HUMAN MUTATION (2019)
VarSome: the human genomic variant search engine
Christos Kopanos et al.
BIOINFORMATICS (2019)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells
Ning Ma et al.
CIRCULATION (2018)
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
Sean V. Tavtigian et al.
GENETICS IN MEDICINE (2018)
Accurate classification of BRCA1 variants with saturation genome editing
Gregory M. Findlay et al.
NATURE (2018)
ClinVar at five years: Delivering on the promise
Melissa J. Landrum et al.
HUMAN MUTATION (2018)
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics
Alice B. Popejoy et al.
HUMAN MUTATION (2018)
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Sarah S. Kalia et al.
GENETICS IN MEDICINE (2017)
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Quan Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants
Gail P. Jarvik et al.
AMERICAN JOURNAL OF HUMAN GENETICS (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)
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Xiaoming Liu et al.
HUMAN MUTATION (2016)
A spectral approach integrating functional genomic annotations for coding and noncoding variants
Iuliana Ionita-Laza et al.
NATURE 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)
Predicting effects of noncoding variants with deep learning-based sequence model
Jian Zhou et al.
NATURE METHODS (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
Chengliang Dong et al.
HUMAN MOLECULAR GENETICS (2015)
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
Trevor J. Pugh et al.
GENETICS IN MEDICINE (2014)
Saturation editing of genomic regions by multiplex homology-directed repair
Gregory M. Findlay et al.
NATURE (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher 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)
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies
Michael J. Ackerman et al.
EUROPACE (2011)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
ROCR: visualizing classifier performance in R
T Sing et al.
BIOINFORMATICS (2005)