Search Results - Steven Harrison

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  1. 1

    Journalists, Numeracy and Cultural Capital by Steven Harrison

    Published in Numeracy (2016-07-01)
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  2. 2

    P645: Creation of a ClinGen standard operating procedure to guide gene- and disease-specific refinements of the ACMG/AMP criteria by Alicia Byrne, Steven Harrison, Heidi Rehm

    Published in Genetics in Medicine Open (2023-01-01)
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  3. 3

    P749: BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes by Matthew Johnson, Ashley Marsh, Laura Hudish, Marcy Richardson, Steven Harrison

    Published in Genetics in Medicine Open (2025-01-01)
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  4. 4

    P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification by Leslie Biesecker, Alicia Byrne, Steven Harrison, Tina Pesaran, Alejandro Schäffer, Brian Shirts, Sean Tavtigian, Heidi Rehm

    Published in Genetics in Medicine Open (2024-01-01)
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  5. 5

    P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF* by Moriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor Seaby, Eleina England, Jordan Wood, Rachel Son, Nicholas Watts, Konrad Karczewski, Steven Harrison, Daniel MacArthur, Heidi Rehm, Anne O'Donnell-Luria

    Published in Genetics in Medicine Open (2023-01-01)
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  6. 6

    P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI) by Matthew Wright, Christine Preston, Karen Dalton, Gloria Cheung, Mark Mandell, Bryan Wulf, Lawrence Babb, Marina DiStefano, Steven Harrison, Clarissa Klein, Rachel Shapira, Ingrid Keseler, Deborah Ritter, Neethu Shah, Kevin Riehle, Aleksandar Milosavljevic, Sharon Plon, Teri Klein

    Published in Genetics in Medicine Open (2023-01-01)
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  7. 7

    P630: ClinGen curation of ClinVar: Improving a critical community resource* by Heidi Rehm, Julie Ratliff, Pamela Robertson, Danielle Azzariti, Larry Babb, Anabella Popiel, Audrey O’Neill, Vanessa Gitau, Ryan Webb, Eric Coleman, Kyle Ferriter, Terry O’Neill, Kuljeet Kaur, Shanmuga Chitipiralla, Chao Chen, Baoshan Gu, Jinpeng Yang, Steven Harrison, Erin Riggs, Marina DiStefano, Melissa Landrum

    Published in Genetics in Medicine Open (2025-01-01)
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