P464: ROH pipeline enables analysis of regions of homozygosity using next generation sequencing data

by Manavalan Gajapathy, Brandon Wilk, Donna Brown, Caroline Vrana-Diaz, Jessica Bohonowych, Theresa Strong, Elizabeth Worthey
Published 2023-01-01

P492: Identification of molecular modifiers of disease in a group of systematically phenotyped patients with cystic fibrosis

by Gurpreet Kaur, Donna Brown, Brandon Wilk, Manavalan Gajapathy, Tarun Karthik Mamidi, Shaurita Hutchins, Camille Birch, Felipe Massicano, Jinmyung Choi, Sangita Murali, Huichuan Lai, Philip Farrell, Elizabeth Worthey
Published 2023-01-01

Ten simple rules for using public biological data for your research.

by Vishal H Oza, Jordan H Whitlock, Elizabeth J Wilk, Angelina Uno-Antonison, Brandon Wilk, Manavalan Gajapathy, Timothy C Howton, Austyn Trull, Lara Ianov, Elizabeth A Worthey, Brittany N Lasseigne
Published 2023-01-01

Ten simple rules for using public biological data for your research

by Vishal H. Oza, Jordan H. Whitlock, Elizabeth J. Wilk, Angelina Uno-Antonison, Brandon Wilk, Manavalan Gajapathy, Timothy C. Howton, Austyn Trull, Lara Ianov, Elizabeth A. Worthey, Brittany N. Lasseigne
Published 2023-01-01

VarSight: prioritizing clinically reported variants with binary classification algorithms

by James M. Holt, Brandon Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander C. Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Undiagnosed Diseases Network, Elizabeth A. Worthey
Published 2019-10-01

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

by Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria
Published 2024-04-01