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- Variants within TSC2 Exons 25 and 31 are very unlikely to cause clinically diagnosable tuberous sclerosis.Hum Mutat. 2016; 37: 364-370
- Proof of “disease causing” mutation.Hum Mutat. 1998; 12: 1-3
- A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.Am J Hum Genet. 2007; 81: 873-883
- Classifying variants of CDKN2A using computational and laboratory studies.Hum Mutat. 2011; 32: 900-911
- Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.Nat Genet. 2013; 45: 1160-1167
- Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Nat Genet. 2014; 46: 107-115
- Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.Genome Med. 2019; 11: 5
- Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.Genet Med. 2017; 19: 1096-1104
- ACMG recommendations for standards for interpretation of sequence variations.Genet Med. 2000; 2: 302
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.Genet Med. 2008; 10: 294-300
- 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.Genet Med. 2015; 17: 405-424
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.Hum Mutat. 2008; 29: 1282-1291
- Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.Hum Mutat. 2018; 39: 1517-1524
- The essence of SNPs.Gene. 1999; 234: 177-186
- Integrating common and rare genetic variation in diverse human populations.Nature. 2010; 467: 52-58
- A global reference for human genetic variation.Nature. 2015; 526: 68-74
- Analysis of protein-coding genetic variation in 60,706 humans.Nature. 2016; 536: 285-291
- Using high-resolution variant frequencies to empower clinical genome interpretation.Genet Med. 2017; 19: 1151-1158
- Multigene testing of moderate-risk genes: be mindful of the missense.J Med Genet. 2016; 53: 366-376
- Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.Hum Mutat. 2018; 39: 1531-1541
- Gene-specific criteria for PTEN variant curation: recommendations from the ClinGen PTEN expert panel.Hum Mutat. 2018; 39: 1581-1592
- Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.Proc Natl Acad Sci U S A. 2003; 100: 8424-8429
- The power of multiplexed functional analysis of genetic variants.Nat Protoc. 2016; 11: 1782-1787
- Evaluation of ACMG-guideline-based variant classification of cancer susceptibility and non-cancer-associated genes in families affected by breast cancer.Am J Hum Genet. 2016; 98: 801-817
- Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.Genome Biol. 2017; 18: 225
- New insights into the pathogenicity of non-synonymous variants through multi-level analysis.Sci Rep. 2019; 9: 1667
- Computational tools for splicing defect prediction in breast/ovarian cancer genes: how efficient are they at predicting RNA alterations?.Front Genet. 2018; 9: 366
- Lessons from non-canonical splicing.Nat Rev Genet. 2016; 17: 407-421
- Single nucleotide variations: biological impact and theoretical interpretation.Protein Sci. 2014; 23: 1650-1666
- In silico analysis of missense substitutions using sequence-alignment based methods.Hum Mutat. 2008; 29: 1327-1336
- Human allelic variation: perspective from protein function, structure, and evolution.Curr Opin Struct Biol. 2010; 20: 342-350
- REVEL: an ensemble method for predicting the pathogenicity of rare missense variants.Am J Hum Genet. 2016; 99: 877-885
- Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.Genet Med. 2019; 21: 71-80
- The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.Hum Mutat. 2015; 36: 513-523
- Use of targeted exome sequencing for molecular diagnosis of skeletal disorders.PLoS One. 2015; 10: e0138314
- Choosing a retrospective design to assess joint genetic and environmental contributions to risk.Am J Epidemiol. 2000; 152: 197-203
- Interpretation of genetic association studies in complex disease.Pharmacogenomics J. 2002; 2: 349-360
- How well does paternity confidence match actual paternity?: Evidence from worldwide nonpaternity rates.Curr Anthropol. 2006; 47: 513-520
- Collection and analysis of pedigree data.Birth Defects Orig Artic Ser. 1984; 20: 61-76
- Sequential tests for the detection of linkage.Am J Hum Genet. 1955; 7: 277-318
- Complex segregation analysis with pointers.Hum Hered. 1981; 31: 312-321
- Consideration of cosegregation in the pathogenicity classification of genomic variants.Am J Hum Genet. 2016; 98: 1077-1081
- A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Mol Psychiatry. 2013; 18: 141-153
- New insights into the generation and role of de novo mutations in health and disease.Genome Biol. 2016; 17: 241
- Guidelines for investigating causality of sequence variants in human disease.Nature. 2014; 508: 469-476
- Associations between cancer predisposition testing panel genes and breast cancer.JAMA Oncol. 2017; 3: 1190-1196
- Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.Gynecol Oncol. 2017; 146: 123-128
- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.Hum Mutat. 2008; 29: 1265-1272
- Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.Hum Mutat. 2008; 29: 1261-1264
- Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.Am J Hum Genet. 2004; 75: 535-544
- Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.Genet Med. 2018; 20: 1054-1060
- Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel.Genet Med. 2018; https://doi.org/10.1038/gim.2017.218
- ClinGen--the clinical genome resource.N Engl J Med. 2015; 372: 2235-2242
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Hum Mutat. 2018; 39: 1614-1622
- Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.Hum Mutat. 2018; 39: 1641-1649
Article info
Footnotes
This article originally appeared in Advances in Molecular Pathology, Volume 2, 2019.
Disclosure: J. Mester is an employee of GeneDx, Inc., a wholly owned subsidiary of OPKO Health, Inc. T. Pesaran is an employee of Ambry Genetics, a wholly owned subsidiary of Konica-Minolta.