title: Digital genotyping using molecular affinity and mass spectrometry.
abstract: 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.
authors: Columbia Genome Center and the Department of Chemical Engineering, Columbia University College of Physicians and Surgeons, New York 10032, USA.
authors: Sobin
authors: S
authors: Kim
authors: Hameer D
authors: HD
authors: Ruparel
authors: T Conrad
authors: TC
authors: Gilliam
authors: Jingyue
authors: J
authors: Ju
mesh_terms: D005838:Genotype; D013058:Mass Spectrometry / Q000379:methods*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*