Related Experiment Video
Updated: Aug 20, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Pangenomic Genotyping with the Marker Array
Taher Mun1, Naga Sai Kavya Vaddadi2, Ben Langmead3
1Johns Hopkins University, Baltimore MD, USA; Illumina, San Diego, USA.
Abstract:
We present a new method and software tool called rowbowt that applies a pangenome index to the problem of inferring genotypes from short-read sequencing data. The method uses a novel indexing structure called the marker array. Using the marker array, we can genotype variants with respect from large panels like the 1000 Genomes Project while avoiding the reference bias that results when aligning to a single linear reference. rowbowt can infer accurate genotypes in less time and memory compared to existing graph-based methods.
Related Concept Videos
DNA Microarrays
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...

