Our HMMSTR paper is published in Nucleic Acids Research! This work pairs multiplexed targeted nanopore sequencing with HMMSTR to improve detection and genotyping of disease-associated tandem repeat expansions. The approach performs well for heterozygous repeats and at low coverage, while achieving deep targeted coverage in patient-derived samples. Congratulations to Kinsey and Camille on leading this study!
Our HMMSTR paper is published in Nucleic Acids Research!
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