Article

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation

2024-03-07

Abstract excerpt

Less than half of individuals with a suspected Mendelian condition receive a precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in data quality and costs have heightened interest in using long-read sequencing (LRS) to streamline clinical genomic testing, but the absence of control datasets for variant filtering and prioritization has made tertiary analysis of LRS data challengin...

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Literature Corpus work: 1057e9de-72e8-5c3e-8ef8-935d25ea62b7
DOI: 10.1101/2024.03.05.24303792

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