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ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)

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Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:GWAS summary statistics· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

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Ahmad N. Abou TayouniD· 1 shared Andrea M. OzaiD· 1 shared Heidi L. RehmiD· 1 shared Leslie G. BieseckeriD· 1 shared Marina T. DiStefanoiD· 1 shared Steven M. HarrisoniD· 1 shared Tina F. PesaraniD· 1 shared

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Ahmad N. Abou TayounORCID

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Recent·Most cited

GenomicsHuman MutationPeer-reviewedSep 7, 2018

Recommendations for Interpreting the Loss of Function PVS1 ACMG/AMP Variant Criteria

Ahmad N. Abou Tayoun, Tina F. Pesaran, Marina T. DiStefano…·ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)

The paper provides refined recommendations for applying the PVS1 ACMG/AMP variant criteria to loss of function variants, addressing gaps in the original guideline through evaluation with curated variants.

898 citationstop 1%

GWAS summary statisticsstatistical model

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