Minimizing Reference Bias with an Impute-First Approach
Kavya Vaddadi, Taher Mun, Ben Langmead
The paper introduces an impute-first alignment framework that improves variant calling accuracy and efficiency by using a personalized diploid reference.
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Johns Hopkins UniversityORCID 0000-0001-9020-2666Unclaimed ORCID profile · follow to get notified of new preprints
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Kavya Vaddadi, Taher Mun, Ben Langmead
The paper introduces an impute-first alignment framework that improves variant calling accuracy and efficiency by using a personalized diploid reference.
Taher Mun, Kavya Vaddadi, Ben Langmead
The paper introduces rowbowt, a tool for pangenomic genotyping using a marker array to improve accuracy and efficiency over existing methods.
Kavya Vaddadi, Kshitij Tayal, Rajgopal Srinivasan, Naveen Sivadasan
This paper introduces V-ALIGN, a new sequence alignment algorithm for directed graphs that avoids DAGification steps, improving efficiency for aligning sequences on genomic variation graphs.