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Advancing Long-Read Nanopore Genome Assembly and Accurate Variant Calling for Rare Disease Detection.

Shloka Negi,Sarah L. Stenton,Seth I. Berger, Paolo Canigiula,Brandy McNulty,Ivo Violich,Joshua Gardner, Todd Hillaker,Sara M. O’Rourke,Melanie C. O’Leary, Elizabeth Carbonell,Christina Austin-Tse,Gabrielle Lemire,Jillian Serrano,Brian Mangilog,Grace VanNoy,Mikhail Kolmogorov,Eric Vilain,Anne O’Donnell-Luria,Emmanuèle Délot

The American Journal of Human Genetics（2025）

引用 0|浏览8
关键词
long-read sequencing,structural variants,rare-disease diagnosis,gene conversion,haplotype phasing,methylation,clinical testing,variant annotation
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