檢索結果 - Heidi Rehm

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

獲取全文

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

獲取全文

P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort 由 Emily Groopman, Moriel Singer-Berk, Nicola Whiffin, Jamie Ellingford, Samantha Baxter, Heidi Rehm, Anne O’Donnell-Luria

獲取全文

P504: A universal filter enabling high throughput genomic screening 由 Kalotina Machini, Limin Hao, Hana Zook, Lisa Mahanta, Heather Mason-Suares, Anna Nagy, Heidi Rehm, Sami Amr, Matthew Lebo

獲取全文

P155: The ClinGen framework for naming monogenic diseases* 由 Courtney Thaxton, Leslie Biesecker, Marina DiStefano, Melissa Haendel, Emma Owens, Ada Hamosh, Sharon Plon, Heidi Rehm, Jonathan Berg

獲取全文

P642: Facilitating machine learning and artificial intelligence in genetic databases: An open-source tool for data integration and summarization 由 Anna Nagy, Xinsong Du, Xinyi Wang, Michael Oates, Samuel Aronson, Joseph Plasek, Larry Babb, Heidi Rehm, Li Zhou, Matthew Lebo

獲取全文

P114: Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics 由 Samantha Baxter, Moriel Singer-Berk, Kathryn Russell, Emily Groopman, Nicholas Watts, Michael Wilson, Jordan Wood, Heidi Rehm, Anne O'Donnell-Luria

獲取全文

P416: An elusive diagnosis of congenital methemoglobinemia type II 由 Laura Yeoh, Melanie O'Leary, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Alba Sanchis-Juan, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm, Stephanie Sacharow

獲取全文

P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates* 由 Samantha Baxter, Moriel Singer-Berk, Kathryn Russell, Mutaz Amin, Carmen Glaze, Riley Grant, Josephine Lee, Nick Watts, Michael Wilson, Heidi Rehm, Anne O'Donnell-Luria

獲取全文

P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF* 由 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

獲取全文

P579: Multidimensional utility of genomic autopsy for infant mortality 由 Monica Wojcik, Casie Genetti, Malika Sud, Jill Madden, Kathleen Garvey, Ikeoluwa Osei-Owusu, Nicole Groussis, Sundos Al-Husayni, Pankaj Agrawal, Richard Goldstein, Heidi Rehm, Anne O'Donnell-Luria, Alan Beggs, Ingrid Holm

獲取全文

P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis 由 Christina Tse, Kaileigh Ahlquist, Matthew Welland, Paul de Fazio, Cas Simons, Lynn Pais, Giles Hall, Jeremiah Wander, Greg Smith, Laura Gauthier, Anne O'Donnell-Luria, Daniel MacArthur, Zornitza Stark, Heidi Rehm, Kaitlin Samocha

獲取全文

O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group* 由 Matthew Lebo, Marcie Steeves, Katherine Benson, Laura Conlin, Mythily Ganapathi, Vaidehi Jobanputra, Minjie Luo, Deqiong Ma, Kelly McGoldrick, Blake Palculict, Heidi Rehm, Panagiotis Sergouniotis, Samantha Schilit, Pinar Bayrak-Toydemir, Tatiana Tvrdik, Nicholas Watkins, Lauren Zec, Wenying Zhang Zhang, Ryan Schmidt

獲取全文

P630: ClinGen curation of ClinVar: Improving a critical community resource* 由 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

獲取全文

O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD) 由 Harrison Brand, Xuefang Zhao, Jack Fu, Ryan Collins, Isaac Wong, Cal Liao, Lily Wang, Samantha Baxter, Matthew Solomonson, Philip Darnowsky, Sinéad Chapman, Christine Stevens, Caroline Cusick, Alba Sanchis-Juan, Mark Walker, Nehir Kurtas, Katherine Chao, Stacey Gabriel, Eric Banks, Anne O’Donnell-Luria, Daniel MacArthur, Heidi Rehm, Benjamin Neale, Mark Daly, Kaitlin Samocha, Konrad Karczewski, Michael Talkowski

獲取全文

O28: GREGoR: Accelerating genomics for rare diseases 由 Moez Dawood, Ben Heavner, Marsha Wheeler, Rachel Ungar, Jonathan LoTempio, Laurens Wiel, Seth Berger, Jonathan Bernstein, Jessica Chong, Emmanuèle Délot, Evan Eichler, Richard Gibbs, James Lupski, Ali Shojaie, Michael Talkowski, Chia-Lin Wei, Matthew Wheeler, Eric Vilain, Fritz Sedlazeck, Danny Miller, Casey Gifford, Susanne May, Heidi Rehm, Anne O'Donnell-Luria, Jennifer Posey, Lisa Chadwick, Michael Bamshad, Stephen Montgomery

獲取全文

O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function 由 Heidi Rehm, Julia Goodrich, Katherine Chao, Kristen Laricchia, Michael Wilson, Jack Fu, Grace Tiao, Qin He, Daniel Marten, Timothy Poterba, Christopher Vittal, Siwei Chen, Wenhan Lu, Samantha Baxter, Sinéad Chapman, Caroline Cusick, Philip Darnowsky, Laura Gauthier, Leonhard Gruenschloss, Riley Grant, Stephen Jahl, Matthew Solomonson, Christine Stevens, Daniel MacArthur, Michael Talkowski, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Konrad Karczewski, Mark Daly

獲取全文

P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions 由 Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm

獲取全文

P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition* 由 Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm

獲取全文

P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease* 由 Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm

獲取全文