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ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing.
Bioinformatics. 2014 Jun 15;30(12):1767-8. doi: 10.1093/bioinformatics/btu108. Epub 2014 Feb 26.
Bioinformatics. 2014.
PMID: 24578402
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
Méndez-Vidal C, et al. Among authors: lopez domingo fj.
Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013.
Mol Vis. 2013.
PMID: 24227914
Free PMC article.
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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Dopazo J, Amadoz A, Bleda M, Garcia-Alonso L, Alemán A, García-García F, Rodriguez JA, Daub JT, Muntané G, Rueda A, Vela-Boza A, López-Domingo FJ, Florido JP, Arce P, Ruiz-Ferrer M, Méndez-Vidal C, Arnold TE, Spleiss O, Alvarez-Tejado M, Navarro A, Bhattacharya SS, Borrego S, Santoyo-López J, Antiñolo G.
Dopazo J, et al. Among authors: lopez domingo fj.
Mol Biol Evol. 2016 May;33(5):1205-18. doi: 10.1093/molbev/msw005. Epub 2016 Jan 13.
Mol Biol Evol. 2016.
PMID: 26764160
Free PMC article.
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Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).
Lagarde J, Uszczynska-Ratajczak B, Santoyo-Lopez J, Gonzalez JM, Tapanari E, Mudge JM, Steward CA, Wilming L, Tanzer A, Howald C, Chrast J, Vela-Boza A, Rueda A, Lopez-Domingo FJ, Dopazo J, Reymond A, Guigó R, Harrow J.
Lagarde J, et al. Among authors: lopez domingo fj.
Nat Commun. 2016 Aug 17;7:12339. doi: 10.1038/ncomms12339.
Nat Commun. 2016.
PMID: 27531712
Free PMC article.
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