Targeted sequencing identifies novel variants in common and rare MODY genes.

Lucas Santos de Santana Lilian A CaetanoAline D Costa-RiquettoPedro C FrancoRenata P DottoAndré F ReisLetícia S WeinertSandra P SilveiroMarcio F VendraminiFlaviene A do PradoGiovanna C P AbrahãoAna Gregória F P de AlmeidaMaria da G Rodrigues TavaresWagner Rodrigo B GonçalvesAugusto C Santomauro JuniorBruno HalpernAlexander Augusto de Lima JorgeMarcia NeryMilena G Teles

Published in: Molecular genetics & genomic medicine (2019)

A multiloci genetic approach allowed the identification of rare MODY subtypes, reducing the large percentage of MODY-X in Brazilian cases and contributing to a better clinical, therapeutic, and prognostic characterization of these rare phenotypes.

Keyphrases

genome wide
copy number
bioinformatics analysis
dna methylation
cancer therapy
single cell
gene expression
transcription factor