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Page 1
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J, Olson ND, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang YC, Gupta R, Wenger AM, Rowell WJ, Khan ZM, Farek J, Zhu Y, Pisupati A, Mahmoud M, Xiao C, Yoo B, Sahraeian SME, Miller DE, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Narzisi G, Evani US, Clarke WE, Lee J, Mason CE, Lincoln SE, Miga KH, Ebbert MTW, Shumate A, Li H, Chin CS, Zook JM, Sedlazeck FJ. Wagner J, et al. Among authors: jaspez d. Nat Biotechnol. 2022 May;40(5):672-680. doi: 10.1038/s41587-021-01158-1. Epub 2022 Feb 7. Nat Biotechnol. 2022. PMID: 35132260 Free PMC article.
A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data.
García-Olivares V, Muñoz-Barrera A, Lorenzo-Salazar JM, Zaragoza-Trello C, Rubio-Rodríguez LA, Díaz-de Usera A, Jáspez D, Iñigo-Campos A, González-Montelongo R, Flores C. García-Olivares V, et al. Among authors: jaspez d. Sci Rep. 2021 Oct 15;11(1):20510. doi: 10.1038/s41598-021-99895-5. Sci Rep. 2021. PMID: 34654896 Free PMC article.
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Olson ND, Wagner J, McDaniel J, Stephens SH, Westreich ST, Prasanna AG, Johanson E, Boja E, Maier EJ, Serang O, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Kyriakidis K, Malousi A, Shafin K, Pesout T, Jain M, Paten B, Chang PC, Kolesnikov A, Nattestad M, Baid G, Goel S, Yang H, Carroll A, Eveleigh R, Bourgey M, Bourque G, Li G, Ma C, Tang L, Du Y, Zhang S, Morata J, Tonda R, Parra G, Trotta JR, Brueffer C, Demirkaya-Budak S, Kabakci-Zorlu D, Turgut D, Kalay Ö, Budak G, Narcı K, Arslan E, Brown R, Johnson IJ, Dolgoborodov A, Semenyuk V, Jain A, Tetikol HS, Jain V, Ruehle M, Lajoie B, Roddey C, Catreux S, Mehio R, Ahsan MU, Liu Q, Wang K, Sahraeian SME, Fang LT, Mohiyuddin M, Hung C, Jain C, Feng H, Li Z, Chen L, Sedlazeck FJ, Zook JM. Olson ND, et al. Among authors: jaspez d. Cell Genom. 2022 May 11;2(5):100129. doi: 10.1016/j.xgen.2022.100129. Epub 2022 Apr 27. Cell Genom. 2022. PMID: 35720974 Free PMC article.
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Tosco-Herrera E, Muñoz-Barrera A, Jáspez D, Rubio-Rodríguez LA, Mendoza-Alvarez A, Rodriguez-Perez H, Jou J, Iñigo-Campos A, Corrales A, Ciuffreda L, Martinez-Bugallo F, Prieto-Morin C, García-Olivares V, González-Montelongo R, Lorenzo-Salazar JM, Marcelino-Rodriguez I, Flores C. Tosco-Herrera E, et al. Among authors: jaspez d. Hum Mutat. 2022 Dec;43(12):2010-2020. doi: 10.1002/humu.24459. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36054330
Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders.
Díaz-de Usera A, Rubio-Rodríguez LA, Muñoz-Barrera A, Lorenzo-Salazar JM, Guillen-Guio B, Jáspez D, Corrales A, Íñigo-Campos A, García-Olivares V, Rodríguez Pérez MDC, Marcelino-Rodríguez I, Cabrera de León A, González-Montelongo R, Flores C. Díaz-de Usera A, et al. Among authors: jaspez d. Sci Rep. 2022 Sep 27;12(1):16132. doi: 10.1038/s41598-022-20442-x. Sci Rep. 2022. PMID: 36168029 Free PMC article.
Digging into the admixture strata of current-day Canary Islanders based on mitogenomes.
García-Olivares V, Rubio-Rodríguez LA, Muñoz-Barrera A, Díaz-de Usera A, Jáspez D, Iñigo-Campos A, Rodríguez Pérez MDC, Cabrera de León A, Lorenzo-Salazar JM, González-Montelongo R, Cabrera VM, Flores C. García-Olivares V, et al. Among authors: jaspez d. iScience. 2022 Dec 29;26(1):105907. doi: 10.1016/j.isci.2022.105907. eCollection 2023 Jan 20. iScience. 2022. PMID: 36647378 Free PMC article.
Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data.
García-Olivares V, Muñoz-Barrera A, Rubio-Rodríguez LA, Jáspez D, Díaz-de Usera A, Iñigo-Campos A, Veeramah KR, Alonso S, Thomas MG, Lorenzo-Salazar JM, González-Montelongo R, Flores C. García-Olivares V, et al. Among authors: jaspez d. Comput Struct Biotechnol J. 2023 Sep 15;21:4613-4618. doi: 10.1016/j.csbj.2023.09.012. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 37817776 Free PMC article.
12 results