Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis
Isabelle Thiffault, Emily Farrow, Cassandra Barrett, Meadow Scott, Amy Perrin Ross, John C. Means, Warren Cheung, Adam F. Johnson, Boryana Koseva, Rebecca McLennan, Elin Grundberg, Chengpeng Bi, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey Johnston, Florencia Del Viso, Vitoria Paolillo, John Herriges, Lei Zhang, Margaret Gibson, Ana S.A. Cohen, Joe Alaimo, Carol J. Saunders, Tomi Pastinen
Abstract
This diagnostic study examines the diagnostic yield and turnaround time of long-read sequencing compared to standard-of-care approaches.
Topics & Concepts
MedicineGenetic testingGenetic diagnosisDiagnostic testDiseaseDNA sequencingTurnaround timeTest (biology)MEDLINEHuman geneticsBioinformaticsClinical diagnosisIntensive care medicineWhole genome sequencingYield (engineering)PathologyComplex diseaseInherited diseaseGenetic variantsGenetic counselingGenomics and Rare DiseasesNeurogenetic and Muscular Disorders ResearchCancer Genomics and Diagnostics