Sökning: WFRF:(Ma Shaowei) > PrecisionFDA Truth ...
Fältnamn | Indikatorer | Metadata |
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000 | 06215naa a2201249 4500 | |
001 | oai:lup.lub.lu.se:321a29e2-0c7d-4659-90cc-e5a073131432 | |
003 | SwePub | |
008 | 220514s2022 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/321a29e2-0c7d-4659-90cc-e5a0731314322 URI |
024 | 7 | a https://doi.org/10.1016/j.xgen.2022.1001292 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Olson, Nathan D.u National Institute of Standards and Technology (NIST)4 aut |
245 | 1 0 | a PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions |
264 | 1 | b Elsevier BV,c 2022 |
520 | a The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied their variant-calling pipelines and submitted 64 variant call sets for one or more sequencing technologies (Illumina, PacBio HiFi, and Oxford Nanopore Technologies). Submissions were evaluated following best practices for benchmarking small variants with updated Genome in a Bottle benchmark sets and genome stratifications. Challenge submissions included numerous innovative methods, with graph-based and machine learning methods scoring best for short-read and long-read datasets, respectively. With machine learning approaches, combining multiple sequencing technologies performed particularly well. Recent developments in sequencing and variant calling have enabled benchmarking variants in challenging genomic regions, paving the way for the identification of previously unknown clinically relevant variants. | |
650 | 7 | a NATURVETENSKAPx Biologix Bioinformatik och systembiologi0 (SwePub)106102 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Bioinformatics and Systems Biology0 (SwePub)106102 hsv//eng |
650 | 7 | a NATURVETENSKAPx Data- och informationsvetenskapx Bioinformatik0 (SwePub)102032 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Computer and Information Sciencesx Bioinformatics0 (SwePub)102032 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a DNA | |
653 | a variant | |
653 | a shot-read sequencing | |
653 | a long-read sequencing | |
653 | a benchmark | |
700 | 1 | a Wagner, Justinu National Institute of Standards and Technology (NIST)4 aut |
700 | 1 | a McDaniel, Jenniferu National Institute of Standards and Technology (NIST)4 aut |
700 | 1 | a Stephens, Sarah H.u Booz Allen Hamilton, Inc.4 aut |
700 | 1 | a Westreich, Samuel T.u DNAnexus4 aut |
700 | 1 | a Prasanna, Anish G.u Booz Allen Hamilton, Inc.4 aut |
700 | 1 | a Johanson, Elaineu United States Food and Drug Administration4 aut |
700 | 1 | a Boja, Emilyu United States Food and Drug Administration4 aut |
700 | 1 | a Maier, Ezekiel J.u Booz Allen Hamilton, Inc.4 aut |
700 | 1 | a Serang, Omaru DNAnexus4 aut |
700 | 1 | a Jáspez, David4 aut |
700 | 1 | a Lorenzo-Salazar, José M.4 aut |
700 | 1 | a Muñoz-Barrera, Adrián4 aut |
700 | 1 | a Rubio-Rodríguez, Luis A.4 aut |
700 | 1 | a Flores, Carlos4 aut |
700 | 1 | a Kyriakidis, Konstantinos4 aut |
700 | 1 | a Malousi, Andigoni4 aut |
700 | 1 | a Shafin, Kishwar4 aut |
700 | 1 | a Pesout, Trevor4 aut |
700 | 1 | a Jain, Miten4 aut |
700 | 1 | a Paten, Benedict4 aut |
700 | 1 | a Chang, Pi-Chuan4 aut |
700 | 1 | a Kolesnikov, Alexey4 aut |
700 | 1 | a Nattestad, Maria4 aut |
700 | 1 | a Baid, Gunjan4 aut |
700 | 1 | a Goel, Sidharth4 aut |
700 | 1 | a Yang, Howard4 aut |
700 | 1 | a Carroll, Andrew4 aut |
700 | 1 | a Eveleigh, Robert4 aut |
700 | 1 | a Bourgey, Mathieu4 aut |
700 | 1 | a Bourque, Guillaume4 aut |
700 | 1 | a Li, Gen4 aut |
700 | 1 | a MA, ChouXian4 aut |
700 | 1 | a Tang, LinQi4 aut |
700 | 1 | a DU, YuanPing4 aut |
700 | 1 | a Zhang, ShaoWei4 aut |
700 | 1 | a Morata, Jordi4 aut |
700 | 1 | a Tonda, Raúl4 aut |
700 | 1 | a Parra, Genís4 aut |
700 | 1 | a Trotta, Jean-Rémi4 aut |
700 | 1 | a Brueffer, Christianu Lund University,Lunds universitet,Translational Oncogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 aut0 (Swepub:lu)med-csb |
700 | 1 | a Demirkaya-Budak, Sinem4 aut |
700 | 1 | a Kabakci-Zorlu, Duygu4 aut |
700 | 1 | a Turgut, Deniz4 aut |
700 | 1 | a Kalay, Özem4 aut |
700 | 1 | a Budak, Gungor4 aut |
700 | 1 | a Narcı, Kübra4 aut |
700 | 1 | a Arslan, Elif4 aut |
700 | 1 | a Brown, Richard4 aut |
700 | 1 | a Johnson, Ivan J.4 aut |
700 | 1 | a Dolgoborodov, Alexey4 aut |
700 | 1 | a Semenyuk, Vladimir4 aut |
700 | 1 | a Jain, Amit4 aut |
700 | 1 | a Tetikol, H. Serhat4 aut |
700 | 1 | a Jain, Varun4 aut |
700 | 1 | a Ruehle, Mike4 aut |
700 | 1 | a Lajoie, Bryan4 aut |
700 | 1 | a Roddey, Cooper4 aut |
700 | 1 | a Catreux, Severine4 aut |
700 | 1 | a Mehio, Rami4 aut |
700 | 1 | a Ahsan, Mian Umair4 aut |
700 | 1 | a Liu, Qian4 aut |
700 | 1 | a Wang, Kai4 aut |
700 | 1 | a Sahraeian, Sayed Mohammad Ebrahim4 aut |
700 | 1 | a Fang, Li Tai4 aut |
700 | 1 | a Mohiyuddin, Marghoob4 aut |
700 | 1 | a Hung, Calvin4 aut |
700 | 1 | a Jain, Chirag4 aut |
700 | 1 | a Feng, Hanying4 aut |
700 | 1 | a Li, Zhipan4 aut |
700 | 1 | a Chen, Luoqi4 aut |
700 | 1 | a Sedlazeck, Fritz J.4 aut |
700 | 1 | a Zook, Justin M4 aut |
710 | 2 | a National Institute of Standards and Technology (NIST)b Booz Allen Hamilton, Inc.4 org |
773 | 0 | t Cell Genomicsd : Elsevier BVg 2:5, s. 1-12q 2:5<1-12x 2666-979X |
856 | 4 | u http://dx.doi.org/10.1016/j.xgen.2022.100129x freey FULLTEXT |
856 | 4 8 | u https://lup.lub.lu.se/record/321a29e2-0c7d-4659-90cc-e5a073131432 |
856 | 4 8 | u https://doi.org/10.1016/j.xgen.2022.100129 |
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