蛋白截断变异(protein-truncating variant,PTV)通过引入终止密码子,移码突变或剪接位点,破坏蛋白编码基因[1]。蛋白截断变异的研究对于人类进化(human evolution),基因功能(gene function),疾病相关变异(disease-related variants)和疾病患者变异的临床解读(Clinical interpretation of variants in patients with disease)有着重...
Previous studies have reported that common BMI-associated alleles increased the penetrance of obesity in rare allele carriers in an additive model10. To evaluate this forBSNandAPBA1, we created a common variant polygenic score (PGS) in UK Biobank, using individual variant effect estimates obtained f...
Furthermore,BSNprotein-truncating variants (PTVs) magnified the influence of common genetic variants associated with BMI, with a common variant polygenic score exhibiting an effect twice as large inBSNPTV carriers than in noncarriers. Finally, we explored the plasma proteomic signatures ofBSNPTV ...
between the baseline burden and the burden of interest, we used the rare synonymous variant count as the baseline burden when the burden of interest was a PTV or missense variant and the rare nonsynonymous variant count as the baseline burden when the burden of interest was a synonymous variant...
Enhancing prediction accuracy of coronary artery disease through machine learning-driven genomic variant selection Machine learning (ML) methods are increasingly becoming crucial in genome-wide association studies for identifying key genetic variants or SNPs that statis... Alireza, Z.,Maleeha, M.,Kaikkone...
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification Jayoung Ryu Sam Barkal Luca Pinello Nature Genetics (2024) Improving estimates of loss-of-function constraint for short genes Nicola Whiffin Nature Genetics (2024) A deep catalogue of protein-coding...
蛋白截断变异(protein-truncating variant,PTV)通过引入终止密码子,移码突变或剪接位点,破坏蛋白编码基因[1]。蛋白截断变异的研究对于人类进化(human evolution),基因功能(gene function),疾病相关变异(disease-related variants)和疾病患者变异的临床解读(Clinical interpretation of variants in patients with disease)有着重...
Gene coding regions were enriched via PCR, sequenced, variant called and filtered for quality. ORs for BC risk were estimated separately for carriers of truncating variants and of rare missense variants, which were further subdivided by functional domain and pathogenicity as predicted by fourin ...
These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction.Methods We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48144 cases and 43607 controls of European origin, drawn from 41 studies ...
To better characterise the contribution of variants in ATM, CHEK2, PALB2 and XRCC2, we sequenced their coding regions in 13 087 BC cases and 5488 controls from East Anglia, UK.Gene coding regions were enriched via PCR, sequenced, variant called and filtered for quality. ORs for BC risk ...