Unwell and At-Risk Newborns
Trio data can improve variant prioritisation, classification, and later genome reanalysis utility. Eligibility for the unwell or at-risk cohort is reviewed by a clinical multidisciplinary team. Parents in the at-risk cohort may provide the…
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Trio data can improve variant prioritisation, classification, and later genome reanalysis utility. Eligibility for the unwell or at-risk cohort is reviewed by a clinical multidisciplinary team. Parents in the at-risk cohort may provide their own DNA samples for trio genomic screening. Referrals mainly come from major obstetric and paediatric care hospitals and related clinical specialties. The unwell or at-risk cohort will include 300 newborns referred by healthcare professionals or identified through clinical case discussions.