Clinical impact of whole-genome sequencing in patients with early-onset dementia.

Aamira J HuqBryony ThompsonMark F BennettAdam BournazosShobhana BommireddipalliAlexandra GorelikJoshua SchultzAdrienne SextonRebecca PurvisKirsty WestMegan CotterGiulia ValenteAndrew HughesMoeen RiazMaie WalshSarah FarrandSamantha M LoiTrevor KilpatrickAmy BrodtmannDavid DarbyDhamidhu EratneMark WalterfangMartin Bruce DelatyckiElsdon StoreyMichael FaheySandra CooperPaul LacazeColin L MastersDennis VelakoulisMelanie BahloPaul A JamesIngrid Winship

Published in: Journal of neurology, neurosurgery, and psychiatry (2022)

WGS acts as a single genetic test to identify different types of clinically relevant genetic variations in patients with EOD. WGS, if used as a first-line clinical diagnostic test, has the potential to increase the diagnostic yield and reduce time to diagnosis for EOD.

Keyphrases

early onset
late onset
genome wide
mild cognitive impairment
copy number
cognitive impairment
human health