Steven M. Harrison

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

41h-index10.7kcitations133works33.12yr avg
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Research Topics

Genomics and Rare Diseases(75), Cancer Genomics and Diagnostics(24), Genomic variations and chromosomal abnormalities(19), Genetic factors in colorectal cancer(19), Genetic Associations and Epidemiology(17)

Publications130 total

Rolling out <i>plaque-2-sequence</i> : a single plaque sequencing approach enabling rapid, low-cost sequencing of phages directly from plaques
2025Open Access
Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism
Molecular Medicine·2025Open Access
Extracting and calibrating evidence of variant pathogenicity from population biobank data
The American Journal of Human Genetics·2025· 6 citedOpen Access
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
Genome Medicine·2025· 2 citedOpen Access
ACMG SF v3.3 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)
Genetics in Medicine·2025· 24 cited
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)
UNC Libraries·2025Open Access
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)
UNC Libraries·2025Open Access
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Genetics in Medicine·2025· 30 citedOpen Access
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Genetics in Medicine·2025· 10 cited
P630: ClinGen curation of ClinVar: Improving a critical community resource*
Genetics in Medicine Open·2025Open Access
Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG)
Clinical Chemistry·2025· 11 citedOpen Access
P749: BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes
Genetics in Medicine Open·2025Open Access
ClinGen’s Variant Curation Interface (VCI) imports evidence data in standard formats via the Linked Data Hub (LDH)
2024Open Access
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
2024· 3 citedOpen Access
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
Genetics in Medicine·2024· 42 citedOpen Access
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
2024· 11 citedOpen Access
Extracting and calibrating evidence of variant pathogenicity from population biobank data
2024Open Access
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
Genetics in Medicine·2024· 14 citedOpen Access
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine·2024· 10 citedOpen Access
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
2024· 1 citedOpen Access
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Frequent Co-authors

Heidi L. Rehm(24), Leslie G. Biesecker(15), Sean V. Tavtigian(11), Marc S. Greenblatt(9), Sharon E. Plon(9), Tina Pesaran(8), Jonathan S. Berg(8), Ray E. Hershberger(8), Christa Lese Martin(8), Danielle R. Azzariti(8), Kristy Lee(7), Anne O’Donnell‐Luria(7), Linda A. Baker(7), Ahmad Abou Tayoun(6), Scott Topper(6), Teri E. Klein(6), Steven E. Brenner(6), Marina T. DiStefano(5), Jillian G. Buchan(5), Garry R. Cutting(5)