Digital genotyping using molecular affinity and mass spectrometry.
The goal of DNA sequencing and genotyping is to efficiently generate accurate high-throughput digital genetic information that unambiguously identifies sources of genetic variation and clearly distinguishes heterozygous from homozygous variants. Recent advances in mass-spectrometry-based DNA sequencing and genotyping bode well for meeting these criteria. Pilot studies show that these recently developed approaches allow unambiguous multiplex detection of heterozygous variants and the identification of deletion and insertion variants.
Kim
Sobin
S
Columbia Genome Center and the Department of Chemical Engineering, Columbia University College of Physicians and Surgeons, New York 10032, USA.
Ruparel
Hameer D
HD
Gilliam
T Conrad
TC
Ju
Jingyue
J
D005838:Genotype; D013058:Mass Spectrometry / Q000379:methods*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*