Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Molecular Genetics & Genomic Medicine
Cecchi, Alana C AC; Vengoechea, Elizabeth S ES; Kaseniit, Kristjan E KE; Hardy, Melanie W MW; Kiger, Laura A LA; Mehta, Nikita N; Haque, Imran S IS; Moyer, Krista K; Page, Patricia Z PZ; Muzzey, Dale D; Grinzaid, Karen A KA