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Precisionfda Truth Challenge V2: Calling Variants from Short- and Long-Reads in Difficult-to-map Regions

Nathan D. Olson,Justin Wagner,Jennifer McDaniel,Sarah H. Stephens,Samuel T. Westreich,Anish G. Prasanna,Elaine Johanson,Emily Boja,Ezekiel J. Maier,Omar Serang,David Jaspez,Jose M. Lorenzo-Salazar,Adrian Munoz-Barrera,Luis A. Rubio-Rodriguez,Carlos Flores,Konstantinos Kyriakidis,Andigoni Malousi,Kishwar Shafin,Trevor Pesout,Miten Jain,Benedict Paten,Pi-Chuan Chang,Alexey Kolesnikov,Maria Nattestad,Gunjan Baid,Sidharth Goel,Howard Yang,Andrew Carroll,Robert Eveleigh,Mathieu Bourgey,Guillaume Bourque,Gen Li,ChouXian Ma,LinQi Tang,YuanPing Du,ShaoWei Zhang,Jordi Morata,Raul Tonda,Genis Parra,Jean-Remi Trotta,Christian Brueffer,Sinem Demirkaya-Budak,Duygu Kabakci-Zorlu,Deniz Turgut,Ozem Kalay,Kubra Narci,Elif Arslan,Richard Brown, Ivan J. Johnson,Alexey Dolgoborodov,Vladimir Semenyuk,Amit Jain,H. Serhat Tetikol,Varun Jain,Mike Ruehle,Bryan Lajoie,Cooper Roddey,Severine Catreux,Rami Mehio,Mian Umair Ahsan,Qian Liu,Kai Wang,Sayed Mohammad Ebrahim Sahraeian,Li Tai Fang,Marghoob Mohiyuddin,Calvin Hung,Chirag Jain,Hanying Feng,Zhipan Li,Luoqi Chen,Fritz J. Sedlazeck,Justin M. Zook

Cell Genomics（2022）

Cited 88|Views30
Key words
variant calling,bioinformatics,whole-genome sequencing,benchmarking,precisionFDA
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