Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
genomics
mendelian disorders
paediatrics
rapid diagnostic whole genome
rare disease
Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
14 Jul 2022
14 Jul 2022
Historique:
received:
25
01
2022
accepted:
19
04
2022
entrez:
19
5
2022
pubmed:
20
5
2022
medline:
20
5
2022
Statut:
epublish
Résumé
To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children, a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric uptake is needed. We developed a bioinformatics pipeline for comprehensive gene-agnostic trio WGS analysis of children suspected of having an undiagnosed monogenic disease that included detection and interpretation of primary genetic mechanisms of disease, including SNVs/indels, CNVs/SVs, uniparental disomy (UPD), imprinted genes, short tandem repeat expansions, mobile element insertions,
Identifiants
pubmed: 35586607
doi: 10.1016/j.xhgg.2022.100113
pii: S2666-2477(22)00029-X
pmc: PMC9108978
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100113Informations de copyright
© 2022 University of Cambridge.
Déclaration de conflit d'intérêts
The authors declare no competing interests.
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