Litcius/Paper detail

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Ryan J. Schmidt, Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson, Bradley P. Coe, Laura K. Conlin, Mythily Ganapathi, John Garcia, Michael H. Gollob, Vaidehi Jobanputra, Minjie Luo, Deqiong Ma, Glenn A. Maston, Kelly McGoldrick, Timothy Blake Palculict, Tina Pesaran, Toni I. Pollin, Emily Qian, Heidi L. Rehm, Erin Rooney Riggs, Samantha L.P. Schilit, Panagiotis I. Sergouniotis, Tatiana Tvrdik, Nicholas Watkins, Lauren Zec, Wenying Zhang, Matthew S. Lebo, Alicia B. Byrne, Amanda B. Spurdle, Blake Palculict, Bradley P. Coe, Ma Deqiong, Elaine Lyon, Emily Groopman, Emily Qian, Erik G. Puffenberger, Erin Rooney Riggs, Fergus J. Couch, Glenn Maston, Hannah Dziadzio, James Harraway, Jessica L. Mester, John Garcia, Jordan Lerner‐Ellis, Katherine A. Benson, Kayleigh Avello, Kelly McGoldrick, Laura K. Conlin, Lauren Zec, Marcie Steeves, Marcy E. Richardson, Matthew S. Lebo, Melissa Kelly, Michael H. Gollob, Minjie Luo, Mythily Ganapathi, Nicholas Watkins, Nifang Niu, Panagiotis I. Sergouniotis, Pınar Bayrak‐Toydemir, Ryan J. Schmidt, Samantha L.P. Schilit, Sarah Richards, Tina Pesaran, Toni I. Pollin, Vaidehi Jobanputra, Wenying Zhang, Wuyan Chen, Yuxin Fan

2023Genetics in Medicine69 citationsDOIOpen Access PDF

Topics & Concepts

PenetranceAlleleGeneticsDiseaseHarmonizationPopulationAllele frequencyBiologyMedicineEnvironmental healthGenePhenotypePathologyPhysicsAcousticsGenomics and Rare DiseasesGenetic Associations and EpidemiologyHereditary Neurological Disorders