P575: Scalable, routine, long read genome sequencing of undiagnosed rare disease samples*

Genetics in Medicine Open 2026 Open access

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Authors: Catherine A. Brownstein, Tina Truong, Kshitij Amar, Wanqing Shao, Bryan A. Leland, Katherine Anderson, Thomas Bergin, Kristin Cabral, Mehmet Buğrahan Düz, Nathaniel Edisis, Talia Tzadikario, Casie A. Genetti
+21 more Médéric Jeanne, Daniel S. Marchuk, Rebecca Nelson, Julia Phoon, Pratiksha Pradhan, Luca M. Schierbaum, Ronen Schneider, Shirlee Shril, Rebecca Stubbs, Kenney Tuyen, Carly Tyer, Elena Zion, Shira Rockowitz, Scott F. Hickey, Sissel Juul, Piotr Sliz A, Monica H. Wojcik, Friedhelm Hildebrandt, Wendy K. Chung, Alan H. Beggs, Miten Jain
DOI: 10.1016/j.gimo.2026.104066
Cited by: 0

Abstract

Long read sequencing (LRS) can improve diagnostic yields for genetic assessments. In this study, we performed Nanopore-based LRS of a large cohort of ∼1,000 patient samples without a diagnosis after short read exome/genome sequencing. The cohort consisted of probands alone as well as trios (with unaffected parents). To do this efficiently, we optimized LRS and implemented it across two production sites. These samples included DNA extracted from different tissue types (eg, blood, saliva) using a range of extraction methods processed over decades.

Fields of Study & Subjects

Genomics and Rare Diseases Genomics and Phylogenetic Studies Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104066–104066
Publication date
1 January 2026
Language
EN