Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.

Hui-Lin ChinMiles C BentonLin YangKok-Siong PoonKaren M L TanSaumya S JamuarRoger FooHai Yang LawDenise Li-Meng GohSamuel S ChongPaola Florez de Sessions

Published in: Molecular genetics & genomic medicine (2023)

This finding provided clarity and enabled family planning for the proband and her family.

Keyphrases

pregnant women
single cell
cancer therapy
genome wide
single molecule
smoking cessation
sickle cell disease
copy number
hiv testing
drug delivery