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Keyword

variant reclassification

Description: Variant reclassification is the reassessment and possible revision of a genetic variant’s classification as benign, pathogenic, or uncertain in clinical genetics.
OpenAlex ID: keywords/variant-reclassification
ClinGen — The Clinical Genome Resource
2015 · Heidi L. Rehm, Jonathan S. Berg, et al. · New England Journal of Medicine · 1,480
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Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
2005 · S V Tavtigian, A M Deffenbaugh, et al. · Journal of Medical Genetics · 669
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
2013 · on behalf of InSiGHT, Bryony A Thompson, et al. · Nature Genetics · 467
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
2022 · Rebecca Kingdom, Caroline F. Wright · Frontiers in Genetics · 288
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A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships
2021 · Brendan J Houston, Antoni Riera-Escamilla, et al. · Human Reproduction Update · 287
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Genomic diagnosis for children with intellectual disability and/or developmental delay
2017 · Kevin M. Bowling, Michelle L. Thompson, et al. · Genome Medicine · 273
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False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care
2018 · Stephany Tandy-Connor, Jenna Guiltinan, et al. · Genetics in Medicine · 272
Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing
2018 · Jacqueline Mersch, Nichole Brown, et al. · JAMA · 268
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Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing
2023 · Elaine Chen, Flavia M. Facio, et al. · JAMA Network Open · 231
BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance
2015 · D.M. Eccles, G. Mitchell, et al. · Annals of Oncology · 226
Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions
2011 · Mitzi L Murray, Felecia Cerrato, et al. · Genetics in Medicine · 140
High-Throughput Reclassification of SCN5A Variants
2020 · Andrew M. Glazer, Yuko Wada, et al. · The American Journal of Human Genetics · 132
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Identification of Misclassified ClinVar Variants via Disease Population Prevalence
2018 · Naisha Shah, Ying-Chen Claire Hou, et al. · The American Journal of Human Genetics · 130
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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy
2019 · Rebecca Truty, Nila Patil, et al. · Epilepsia Open · 118
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Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
2021 · Shawn Fayer, Carrie Horton, et al. · The American Journal of Human Genetics · 111
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Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
2019 · Steven M. Harrison, Heidi L. Rehm · Genome Medicine · 104
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Observed frequency and challenges of variant reclassification in a hereditary cancer clinic
2017 · Sarah Macklin, Nisha Durand, et al. · Genetics in Medicine · 104
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Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
2013 · Jipin Das K, Jodie Ingles, et al. · Genetics in Medicine · 102
DeTiN: overcoming tumor-in-normal contamination
2018 · Amaro Taylor-Weiner, Chip Stewart, et al. · Nature Methods · 101
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 96
APP, PSEN1, and PSEN2 Variants in Alzheimer’s Disease: Systematic Re-evaluation According to ACMG Guidelines
2021 · Xuewen Xiao, Hui Liu, et al. · Frontiers in Aging Neuroscience · 94
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A CRISPR-based base-editing screen for the functional assessment of BRCA1 variants
2019 · Jiyeon Kweon, An-Hee Jang, et al. · Oncogene · 92
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Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations
2013 · Stephen G. Gonsalves, David Ng, et al. · Anesthesiology · 91
Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes
2017 · Jessemae L. Welsh, Tanya L. Hoskin, et al. · Annals of Surgical Oncology · 89
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
2021 · Rebecca Truty, Karen Ouyang, et al. · The American Journal of Human Genetics · 84
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Works count: 948
Citation count: 11,740
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