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Summary:

The 2021 ACMG practice resource on screening for autosomal recessive and X-linked conditions recommends equitable carrier screening using an expanded set of genes through which diverse populations can benefit from new technologies. There are significant technical hurdles for laboratories to accommodate the many challenging genes and variants that require non-NGS workflows. Here we demonstrate a single accessible workflow using long-read sequencing sequencing that can genotype variants in technically challenging genes such as FMR1, F8, HBA1/2, SMN1, and CYP21A2 along with 360 loci from 29 autosomal recessive, and X-linked genes.

Authors: James Hernandez, Bradley Hall, Jon Kemppainen, Julie Thibert, Cody Edwards, Liangjing Chen, Ryan Routsong, Chris Fraher, Theodore Markulin, Melissa Church, Jacob Wisotsky, Jonathan Turner, Justin Janovsky, Stela Filipovic-Sadic, Gary J Latham, Brian C Haynes and Sarah Statt

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