Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping.

ABSTRACT: Newborn screening programs are an integral part of public health systems aiming to save lives and improve the quality of life for infants with treatable disorders. Technological advancements have driven the expansion of newborn screening programs in the last two decades and the development of fast, accurate next-generation sequencing technology has opened the door to a range of possibilities in the field. However, technological challenges with short-read next-generation sequencing technologies remain significant in highly homologous genomic regions such as pseudogenes or paralogous genes and need to be considered when implemented in screening programs. Here, we simulate 50 genomes from populations around the world to test the extent to which high homology regions affect short-read mapping

SUBMITTER: Trier C 

PROVIDER: S-EPMC7474066 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature