https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:54872 Tue 19 Mar 2024 16:38:34 AEDT ]]> Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44342 Tue 11 Oct 2022 19:28:24 AEDT ]]> Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:42186 n = 3,473) by performing identity-by-descent (IBD) mapping followed by exome sequencing of individuals identified as sharing risk haplotypes to search for rare risk variants in coding regions. We identified 45 rare haplotypes (>1 cM) that were significantly more common in cases than controls. By exome sequencing 105 haplotype carriers, we investigated these haplotypes for functional coding variants that could be tested for association in independent GWAS samples. We identified one rare missense variant in PCNT but did not find statistical support for an association with schizophrenia in a replication analysis. However, IBD mapping can prioritize both individual samples and genomic regions for follow-up analysis but genome rather than exome sequencing may be more effective at detecting risk variants on rare haplotypes.]]> Fri 26 Aug 2022 10:49:17 AEST ]]>