Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing.

Lauren A ChoateAlaa KoleilatKimberley HarrisNoemi Vidal-FolchAdam GuenzelJessica NewmanBrenda J PetersonSandra E PetersonChristopher S RiceLaura J TrainLinda HasadsriCherisse A MarcouAnn M MoyerLinnea M Baudhuin

Published in: Clinical chemistry (2023)

Together this data demonstrates that reportable indel variants up to 68 bp can be accurately assessed using NGS, even when they occur in complex regions. Depending on the complexity of the region or variant, Sanger sequence confirmation of indels is usually not necessary if the variants meet appropriate coverage and allele frequency thresholds.

Keyphrases

copy number
genome wide
healthcare
big data
gene expression
amino acid
data analysis
deep learning