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Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification Padigepati, Samskruthi Reddy; Stafford, David A.; Tan, Christopher A.; Silvis, Melanie R.; Jamieson, Kirsty; Keyser, Andrew; Nunez, Paola Alejandra Correa; Nicoludis, John M.; Manders, Toby; Fresard, Laure; Kobayashi, Yuya; Araya, Carlos L.; Aradhya, Swaroop; Johnson, Britt; Nykamp, Keith; Reuter, Jason A. Share Save
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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project Stenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; Vannoy, Grace E.; Ditroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O'Donnell-Luria, Anne Share Save
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features Ansari, Morad; Faour, Kamli N. W.; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M.; Denhoff, Erica R.; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M.; Firth, Helen; Breman, Amy M.; Bijlsma, Emilia K.; Iwata-Otsubo, Aiko; de Ravel, Thomy J. L.; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stuhn, Lara G.; Haack, Tobias B.; Korenke, G. Christoph; Constantinou, Panayioti; Bujakowksa, Kinga M.; Low, Karen J.; Place, Emily; Humberson, Jennifer; Napier, Melanie P.; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A.; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tuettelmann, Frank; Conrad, Donald F.; O'Donnell-Luria, Anne; Talkowski, Michael E.; Fitzpatrick, David R.; Boone, Philip M. Share Save
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Continuous, probabilistic variant interpretation with Bayesian graphical models Korn, Wolfgang Michael; Kobayashi, Yuya; Facio, Flavia M.; Nampally, Arun; Nykamp, Keith; Nussbaum, Robert; Colavin, Alexandre; Johnson, Britt; Manders, Toby Share Save
The Impact of Machine Learning Models in Reducing Variants of Uncertain Significance in Individuals From Underrepresented Populations Who Are Undergoing Genetic Testing for Heritable Heart Conditions Morales, Ana; Johnson, Britt; Facio, Flavia; Ting, Yi-Lee; Vatta, Matteo; Fresard, Laure; McKnight, Dianalee; Kobayashi, Yuya; Reuter, Jason; Aradhya, Swaroop; Nykamp, Keith; Colavin, Alexandre Share Save
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration. Crowley, Suzanne; Hankey, William; Elnagheeb, Marwa; Mani, Rahma; Benito, Maria-Ines; Soliman, Rasha; Gomes, Mafalda De Almeida; Ing, Alexander; Abdelwahab, Sabri; Worley, Lindsay; Mcnulty, Shannon; Siew, Justine; Thaxton, Courtney Lynn; Loucks, Catrina M.; Thomas, Simon; Zariwala, Maimoona; Leigh, Margaret; Morris-Rosendahl, Deborah; Zietkiewicz, Ewa; Dell, Sharon; Gaston, Ben; Dworniczak, Bernd; Hirst, Robert; Raidt, Johanna; Nykamp, Keith; Hannah, William; Fassad, Mahmoud; Shoemark, Amelia; Legendre, Marie; Mitchison, Hannah Share Save
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FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer Wilde, Blake R.; Chakraborty, Nishma; Matulionis, Nedas; Hernandez, Stephanie; Ueno, Daiki; Gee, Michayla E.; Esplin, Edward D.; Ouyang, Karen; Nykamp, Keith; Shuch, Brian; Christofk, Heather R. Share Save
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THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS Johnson, Britt; Facio, Flavia; Morales, Ana; Fresard, Laure; McKnight, Dianalee; Kobayashi, Yuya; Reuter, Jason; Aradhya, Swaroop; Nykamp, Keith; Colavin, Alexandre Share Save
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Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing Lu, Eric; Hatchell, Kathryn E.; Nielsen, Sarah M.; Esplin, Edward D.; Ouyang, Karen; Nykamp, Keith; Zavoshi, Shirin; Li, Shantao; Zhang, Liying; Wilde, Blake R.; Christofk, Heather R.; Boutros, Paul C.; Shuch, Brian Share Save
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Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation Truty, Rebecca; Ouyang, Karen; Rojahn, Susan; Garcia, Sarah; Colavin, Alexandre; Hamlington, Barbara; Freivogel, Mary; Nussbaum, Robert L.; Nykamp, Keith; Aradhya, Swaroop Share Save
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria (vol 74, pg 258, 2019) Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott; Aguilar, Sienna; Aradhya, Swaroop; Beltran, Daniel; Bunker, Brandon; Daly, Amy; Deucher, Anne; Ekstein, Tali; Entezam, Ali; Erhard, Karl; Esplin, Ed; Fulbright, Jennifer; Fuller, Amy; Gibson, Kristen McDonald; Hambuch, Tina; Harte, Rachel; Hartshorne, Christy; Haverfield, Eden; Heidari, Nastaran; Hogue, Michelle; Iacoboni, Daniela; Johnson, Britt; Kang, Hio Chung; Lewis, Rachel; Martin, Shiloh; McCalmon, Sarah; Michalski, Scott; Morgan, Cindy; Murillo, Laura; Nicolosi, Piper; Ouyang, Karen; Pardo, Carolina; Quintana, Rita; Rabideau, Marina; Riethmaier, Darlene; Stafford, Amanda; Tahiliani, Jackie; Tan, Chris; Taylor, S. Paige; Wang, Shu-Huei; White, Hannah; Wilson, Ian; Winder, Tom; Zeman, Michelle K. Share Save
Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia Hannah, William B.; Truty, Rebecca; Gonzales, Virginia; Kithcart, Gregory P.; Ouyang, Karen; Zeman, Michelle K.; Li, Chun; Drumm, Mitchell; Nykamp, Keith; Gaston, Benjamin M. Share Save
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