S
Steven M. Harrison
Researcher at Broad Institute
Publications - 59
Citations - 3603
Steven M. Harrison is an academic researcher from Broad Institute. The author has contributed to research in topics: Medicine & Computer science. The author has an hindex of 22, co-authored 49 publications receiving 1867 citations. Previous affiliations of Steven M. Harrison include University of Texas Southwestern Medical Center & Harvard University.
Papers
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Journal ArticleDOI
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Ahmad N. Abou Tayoun,Ahmad N. Abou Tayoun,Tina Pesaran,Marina T. DiStefano,Andrea M. Oza,Heidi L. Rehm,Heidi L. Rehm,Heidi L. Rehm,Leslie G. Biesecker,Steven M. Harrison +9 more
TL;DR: Recommendations for applying the PVS1 criterion are provided, using detailed guidance addressing the above‐mentioned gaps, to facilitate consistent and accurate interpretation of predicted loss of function variants.
Journal ArticleDOI
Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
David T. Miller,Kristy Lee,Wendy K. Chung,Adam S. Gordon,Gail E. Herman,Teri E. Klein,Douglas R. Stewart,Laura M. Amendola,Kathy Adelman,Sherri J. Bale,Michael H. Gollob,Steven M. Harrison,Ray E. Hershberger,Kent D. McKelvey,C. Sue Richards,Christopher N. Vlangos,Michael S. Watson,Christa Lese Martin +17 more
TL;DR: Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement, and to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.
Journal ArticleDOI
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V. Tavtigian,Marc S. Greenblatt,Steven M. Harrison,Robert L. Nussbaum,Snehit Prabhu,Kenneth M. Boucher,Leslie G. Biesecker +6 more
TL;DR: A Bayesian framework validates the approach adopted by the ACMG/AMP, provides opportunities to further refine evidence categories and combining rules, and supports efforts to automate components of variant pathogenicity assessments.
Journal ArticleDOI
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
Melissa A. Kelly,Colleen Caleshu,Ana Morales,Jillian G. Buchan,Zena T. Wolf,Steven M. Harrison,Stuart A. Cook,Mitchell W Dillon,John Garcia,Eden Haverfield,Jan D. H. Jongbloed,Daniela Macaya,Arjun K. Manrai,Kate M. Orland,Gabriele Richard,Katherine Spoonamore,Matthew J Thomas,K Thomson,K Thomson,Lisa M. Vincent,Roddy Walsh,Hugh Watkins,Nicola Whiffin,Jodie Ingles,J. Peter van Tintelen,Christopher Semsarian,James S. Ware,Ray E. Hershberger,Birgit Funke,Birgit Funke +29 more
TL;DR: These adapted rules provide increased specificity for use in MYH7-associated disorders in combination with expert review and clinical judgment and serve as a stepping stone for genes and disorders with similar genetic and clinical characteristics.
Journal ArticleDOI
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Jodie Ingles,Jodie Ingles,Jennifer L. Goldstein,Courtney Thaxton,Colleen Caleshu,Edward W. Corty,Stephanie B. Crowley,Kristen Dougherty,Steven M. Harrison,Jennifer McGlaughon,Laura V. Milko,Ana Morales,Bryce A. Seifert,Natasha T. Strande,K Thomson,J. Peter van Tintelen,Kathleen Wallace,Roddy Walsh,Quinn S. Wells,Nicola Whiffin,Leora Witkowski,Christopher Semsarian,Christopher Semsarian,James S. Ware,Ray E. Hershberger,Birgit Funke +25 more
TL;DR: The majority of genes previously reported as causative of HCM and commonly included in diagnostic tests have limited or no evidence of disease association, showing an established method for evaluating gene-disease associations.