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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

Genome medicine, 2017-02, Vol.9 (1), p.13-13, Article 13

2017

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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

Genetics in medicine, 2017-10, Vol.19 (10), p.1105-1117

2017

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A dynamic model of proteome changes reveals new roles for transcript alteration in yeast

Molecular systems biology, 2011, Vol.7 (1), p.514-n/a

2011

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Sources of discordance among germ-line variant classifications in ClinVar

Genetics in medicine, 2017-10, Vol.19 (10), p.1118-1126

2017

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Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines

The Journal of molecular diagnostics : JMD, 2019-07, Vol.21 (4), p.646-657

2019

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Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

Genome medicine, 2022-03, Vol.14 (1), p.34-34, Article 34

2022

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The first case of CDK5RAP2 -related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

Brain & development (Tokyo. 1979), 2014-04, Vol.36 (4), p.351-355

2014

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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Genome medicine, 2019-12, Vol.12 (1), p.3-3, Article 3

2019

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Sounding out solutions: using SONAR to connect participants with relevant healthcare resources

Journal of the American Medical Informatics Association : JAMIA, 2024-08

2024

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eP518 - A comparison of genotyping and sequencing preemptive genetics screening programs in primary care settings

Molecular genetics and metabolism, 2021-04, Vol.132, p.S335-S336

2021

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A comparison of genotyping and sequencing preemptive genetics screening programs in primary care settings

Molecular genetics and metabolism, 2021-04, Vol.132, p.S335-S336

2021

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LEAP: Using machine learning to support variant classification in a clinical setting

Human mutation, 2020-06, Vol.41 (6), p.1079-1090

2020

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Exome sequencing and the genetics of intellectual disability

Clinical genetics, 2011-08, Vol.80 (2), p.117-126

2011

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Genomic data in the All of Us Research Program

Nature (London), 2024-03, Vol.627 (8003), p.340-346

2024

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Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2022-03, Vol.24 (3), p.509-511

2022

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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Genome Biology, 2024-02, Vol.25 (1), p.53-46, Article 53

2024

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Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

American journal of human genetics, 2015-04, Vol.96 (4), p.675-681

2015

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Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-08, Vol.22 (8), p.1285-1287

2020

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Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX

European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.681-689

2016

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Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar

Genetics in medicine, 2018-02, Vol.20 (2), p.282-282

2018

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Genomic data in the All of Us Research Program

Nature (London), 2024-03, Vol.627 (8003), p.340-3

2024

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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Genetics in medicine, 2024-07, p.101213, Article 101213

2024

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

A dynamic model of proteome changes reveals new roles for transcript alteration in yeast

Sources of discordance among germ-line variant classifications in ClinVar

Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines

Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Predominance of antibody-resistant SARS-CoV-2 variants in vaccine breakthrough cases from the San Francisco Bay Area, California

The first case of CDK5RAP2 -related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Sounding out solutions: using SONAR to connect participants with relevant healthcare resources

eP518 - A comparison of genotyping and sequencing preemptive genetics screening programs in primary care settings

A comparison of genotyping and sequencing preemptive genetics screening programs in primary care settings

LEAP: Using machine learning to support variant classification in a clinical setting

Exome sequencing and the genetics of intellectual disability

Genomic data in the All of Us Research Program

Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX

Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar

Genomic data in the All of Us Research Program

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

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