Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort-Reference-Cited by-同舟云学术

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

Published:2024-05 Issue:5 Volume:26 Page:101076
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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^ORCID

Funder

NHGRI

NHMRC

Australian Genomics Health Alliance

Publisher

Elsevier BV

Reference38 articles.

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3. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease;Marshall;NPJ Genom Med,2020

4. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders;Ewans;Genet Med,2018

5. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature;Schwarze;Genet Med,2018

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