A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening.

Mohamed ImranV R ArvindenPabithadevi Balaiah MehanathanRaskin Erusan RajagopalSuriya Prabha MuthuArul Subbiah ArunachalamRahul C BhoyarHarie VigneshSamya MitraGanga Nath JhaAayush GuptaManoj KumarRohit BhowmickNiladri Sekhar BhuniaAtanu Kumar DuttaVinod Scaria Sridhar Sivasubbu

Published in: The journal of applied laboratory medicine (2024)

Our method effectively sequences LDLR, APOB, and PCSK9 genes including pharmacogenomic variants that will guide appropriate screening and statin dosing, thus increasing both efficiency and affordability.

Keyphrases

genome wide
copy number
low density lipoprotein
cardiovascular disease
real time pcr
coronary artery disease
high throughput
single cell
type diabetes
dna methylation
gene expression
bioinformatics analysis
genome wide identification
sensitive detection