P571: LRSight: Clinical long-read sequencing for insight into inheritance risk*

Genetics in Medicine Open 2026 Open access

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Authors: Candace Myers, Miranda Pg Zalusky, Trent M. Prall, Joy Goffena, Sophie H. R. Storz, Zachary B. Anderson, Erin Oehler, Emily Green, Edith Cheng, Kathryn Gray, Yoshiko Mito, Christina M. Lockwood
+1 more Danny Miller
DOI: 10.1016/j.gimo.2026.104062
Cited by: 0

Abstract

Preconception and prenatal carrier screening are used to identify individuals or couples at risk of having offspring affected by autosomal recessive or X-linked genetic disorders. The latest ACMG guidance recommends a tiered screening approach that includes 97 autosomal recessive and 16 X-linked genes for conditions with a carrier frequency ≥1/200. Several clinically important genes on this list such as CYP21A2, DMD, FMR1, HBA1/2, TNXB, and SMN1 present technical challenges for short-read sequencing (SRS) due to high homology, pseudogenes, or structural complexity.

Fields of Study & Subjects

Genomics and Rare Diseases Prenatal Screening and Diagnostics Connective tissue disorders research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104062–104062
Publication date
1 January 2026
Language
EN