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Small variant benchmark from a complete assembly of X and Y chromosomes.
Wagner J, Olson ND, McDaniel J, Harris L, Pinto BJ, Jáspez D, Muñoz-Barrera A, Rubio-Rodríguez LA, Lorenzo-Salazar JM, Flores C, Sahraeian SME, Narzisi G, Byrska-Bishop M, Evani US, Xiao C, Lake JA, Fontana P, Greenberg C, Freed D, Mootor MFE, Boutros PC, Murray L, Shafin K, Carroll A, Sedlazeck FJ, Wilson M, Zook JM. Wagner J, et al. Among authors: mcdaniel j. Nat Commun. 2025 Jan 8;16(1):497. doi: 10.1038/s41467-024-55710-z. Nat Commun. 2025. PMID: 39779690 Free PMC article.
A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.
Daniels CA, Abdulkadir A, Cleveland MH, McDaniel JH, Jáspez D, Rubio-Rodríguez LA, Muñoz-Barrera A, Lorenzo-Salazar JM, Flores C, Yoo B, Sahraeian SME, Wang Y, Rossi M, Visvanath A, Murray L, Chen WT, Catreux S, Han J, Mehio R, Parnaby G, Carroll A, Chang PC, Shafin K, Cook D, Kolesnikov A, Brambrink L, Mootor MFE, Patel Y, Yamaguchi TN, Boutros PC, Sienkiewicz K, Foox J, Mason CE, Lajoie BR, Ruiz-Perez CA, Kruglyak S, Zook JM, Olson ND. Daniels CA, et al. Among authors: mcdaniel jh. bioRxiv [Preprint]. 2024 Dec 5:2024.12.02.625685. doi: 10.1101/2024.12.02.625685. bioRxiv. 2024. PMID: 39677813 Free PMC article. Preprint.
The GIAB genomic stratifications resource for human reference genomes.
Dwarshuis N, Kalra D, McDaniel J, Sanio P, Alvarez Jerez P, Jadhav B, Huang WE, Mondal R, Busby B, Olson ND, Sedlazeck FJ, Wagner J, Majidian S, Zook JM. Dwarshuis N, et al. Among authors: mcdaniel j. Nat Commun. 2024 Oct 19;15(1):9029. doi: 10.1038/s41467-024-53260-y. Nat Commun. 2024. PMID: 39424793 Free PMC article.
684 results