long-read sequencing

Chromosome Rearrangements Add A New Layer Of Complexity To Genetic Analysis

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A closeup shot of a laboratory worker arranging pipette tips in a blue container for a coronavirus testing Image by wirestock on Freepik Chromosome rearrangements add a powerful and often overlooked layer of complexity to genetic analysis. For decades, our first pass at understanding disease has focused on mutations within exomes—the protein‑coding regions of DNA … Read more

Long-Read Nanopore Sequencing Improves Rare Disease Diagnosis

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Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer after WGS when short-read sequencing is performed. Now, a group of researchers present data that suggests that long-read sequencing may be the better … Read more