Publications
Analysis and benchmarking of small and large genomic variants across tandem repeats. Nat Biotechnol. 2024 ;.
. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 ;.
. Closing the gap: Solving complex medically relevant genes at scale. medRxiv. 2024 ;.
. Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene. Commun Biol. 2022 ;5(1):670.
. Paragraph: a graph-based structural variant genotyper for short-read sequence data. Genome Biol. 2019 ;20(1):291.
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