Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.

Danny E MillerLin LeeMiranda GaleyRenuka Kandhaya-PillaiMarc TischkowitzDeepak AmalnathAvadh VithlaniKoutaro YokoteHisaya KatoYoshiro MaezawaAki Takada-WatanabeMinoru TakemotoGeorge M MartinEvan E EichlerFuki M HisamaJunko Oshima

Published in: Journal of medical genetics (2022)

T-LRS is an effective method for identifying missing pathogenic variants. Although limitations with computational prediction algorithms can hinder the interpretation of variants, T-LRS is particularly effective in identifying intronic variants.

Keyphrases

copy number
machine learning
genome wide
single cell
single molecule
dna methylation
case report
cancer therapy
drug delivery
deep learning