Article
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2024
Dias Kerith-Rae, Shrestha Rupendra, Schofield Deborah, Evans Carey-Anne, O'Heir Emily, Zhu Ying, Zhang Futao, Standen Krystle, Weisburd Ben, Stenton Sarah L, Sanchis-Juan Alba, Brand Harrison, Talkowski Michael E, Ma Alan, Ghedia Sondy, Wilson Meredith, Sandaradura Sarah A, Smith Janine, Kamien Benjamin, Turner Anne, Bakshi Madhura, Adès Lesley C, Mowat David, Regan Matthew, McGillivray George, Savarirayan Ravi, White Susan M, Tan Tiong Yang, Stark Zornitza, Brown Natasha J, Pérez-Jurado Luis A, Krzesinski Emma, Hunter Matthew F, Akesson Lauren, Fennell Andrew Paul, Yeung Alison, Boughtwood Tiffany, Ewans Lisa J, Kerkhof Jennifer, Lucas Christopher, Carey Louise, French Hugh, Rapadas Melissa, Stevanovski Igor, Deveson Ira W, Cliffe Corrina, Elakis George, Kirk Edwin P, Dudding-Byth Tracy, Fletcher Janice, Walsh Rebecca, Corbett Mark A, Kroes Thessa, Gecz Jozef, Meldrum Cliff, Cliffe Simon, Wall Meg, Lunke Sebastian, North Kathryn, Amor David J, Field Michael, Sadikovic Bekim, Buckley Michael F, O'Donnell-Luria Anne, Roscioli Tony
Abstract excerpt
PURPOSE: Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively. METHODS: ES, GS, epigenetic signatures, and long-read sequencing diagnoses were assessed in 74 trios with at least moderate ID. RESULTS: The ES diagnostic yield was 42 of 74 (57%). GS diagnoses were made in 9 of 32...
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