Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Abstract Autosomal recessive diseases (ARD) are typically caused by a limited number of mutations whose identification is challenged by their low prevalence. Our purpose was to develop a novel approach allowing an efficient search for mutations causing ARD and evaluation of their pathogenicity witho...

Full description

Bibliographic Details
Main Authors: Urszula Lechowicz, Tomasz Gambin, Agnieszka Pollak, Anna Podgorska, Piotr Stawinski, Andre Franke, Britt-Sabina Petersen, Malgorzata Firczuk, Monika Oldak, Henryk Skarzynski, Rafal Ploski
Format: Article
Language:English
Published: Nature Publishing Group 2017-05-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-02315-w

Internet

https://doi.org/10.1038/s41598-017-02315-w

Similar Items