Výsledky vyhledávání - "Julie Flores"

Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing

Autor: Dario Dilernia, Pooneh Amin, Julie Flores, Arlene Stecenko, Eric Sorscher

Publikováno v: Human Mutation. 43:595-603

Current approaches to characterize the mutational profile of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are based on targeted mutation analysis or whole gene studies derived from short-read next generation sequencing (NGS). H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a4d5a650a7f1daa9cf3befebff1a905
https://doi.org/10.1002/humu.24352

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Mutation profiling of the F508del CFTR allele using haplotype-resolved long-read next generation sequencing

Autor: Arlene Stecenko, Pooneh Amin, Dario Dilernia, Eric Sorscher, Julie Flores

Current approaches to characterize the mutational profile of CFTR are based on targeted mutation analysis (TMA) or whole gene studies derived from short-read next generation sequencing (NGS). However, these methods lack phasing capability which, in c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::425428401ea17cd3b5c6fb74891a7f00
https://doi.org/10.22541/au.161225491.14153503/v1

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