Leveraging Global Genetics Resources to Enhance Polygenic Prediction Across Ancestrally Diverse Populations [0.03%]
利用全球遗传资源增强跨祖先多样性人群的多基因预测能力
Oliver Pain
Oliver Pain
Genome-wide association studies (GWAS) from multiple ancestral populations are increasingly available, offering opportunities to improve the accuracy and equity of polygenic scores (PGS). Several methods now aim to leverage multiple GWAS so...
Polygenic Risk Scores for Prostate Cancer: Comparative Evaluations in UK and Australian Cohorts [0.03%]
前列腺癌的多基因风险评分在英国和澳大利亚队列中的比较评估
Hamzeh M Tanha,Matthew H Law,Nathan Ingold et al.
Hamzeh M Tanha et al.
Risk-based approaches offer promise for enhancing early detection of prostate cancer. Polygenic risk scores (PGS) have emerged as a potential approach for risk stratification, though their performance varies by population. We evaluated nine...
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease [0.03%]
SMAD5半剂量不足型变异与孤立性先天性心脏病相关
Dimuthu Alankarage,Iryna Leshchynska,Stephanie Portelli et al.
Dimuthu Alankarage et al.
Mothers against decapentaplegic homolog 5, SMAD5, is a transcriptional regulator that functions within the transforming growth factor (TGFβ) signaling cascade. Evidence from animal studies show that it is crucial for dorsoventral patternin...
Genome-wide association studies and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating polyunsaturated, monounsaturated, and saturated fatty acids [0.03%]
全基因组关联研究和多组学综合分析揭示了循环不饱和、单不饱和和饱和脂肪酸的新位点及其分子机制
Yitang Sun,Huifang Xu,Kaixiong Ye
Yitang Sun
Previous genome-wide association studies (GWAS) have identified genetic loci associated with the circulating levels of FAs, but the biological mechanisms of these genetic associations remain largely unexplored. Here, we conducted GWAS to id...
Identification of technically challenging variants - whole genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases [0.03%]
全基因组测序可提高罕见病高临床疑似患者的技术挑战性变异识别诊断率
Hau-Yee Ng,Wei Ma,Wai-Kei J Lam et al.
Hau-Yee Ng et al.
The total burden of rare diseases is significant worldwide with over 300 million people being affected. Many of the rare diseases have both well-defined clinical phenotypes and established genetic causes. However, a remarkable proportion of...
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti [0.03%]
长读取测序技术能更精准地诊断色素失禁症
Monica H Wojcik,Robin D Clark,Abdallah F Elias et al.
Monica H Wojcik et al.
Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical genetic testing in wh...
MED13L Pathogenic Missense Variants Impair Protein Stability and Interaction, Underlying Diverse Clinical Outcomes [0.03%]
MED13L致病性错义变异影响蛋白质稳定性和互作导致不同的临床表现
Thomas Smol,Frédéric Frenois,Morgane Billotte et al.
Thomas Smol et al.
Heterozygous pathogenic variants in MED13L are associated with intellectual disability, developmental delay, and distinctive facial features. While nonsense and frameshift variants typically cause haploinsufficiency, resulting in a well-cha...
Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity [0.03%]
全身基因组关联研究的 meta 分析鉴定葡萄膜黑色素瘤的新易感位点及不同人群效应值异质性
Georgia Mies,Noah L Tsao,Alexandre Houy et al.
Georgia Mies et al.
Uveal melanoma (UM) is a rare but frequently metastasizing cancer. Genome-wide association studies have identified three common genome-wide significant germline risk loci. Here, we perform a genome-wide association study on 401 new cases an...
The Impact of Genetic Ancestry on Survival Outcomes in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group [0.03%]
儿童横纹肌肉瘤中遗传祖先对生存结果的影响：儿童肿瘤学组研究报告
Ekene A Onwuka,Christina L Magyar,Bailey A Martin-Giacalone et al.
Ekene A Onwuka et al.
Emerging evidence suggests genetic ancestry may influence childhood cancer outcomes, but its impact on pediatric rhabdomyosarcoma (RMS) is unknown. We explored genetic ancestry's impact on survival among children with RMS. This multi-center...
Expanding implementation of pediatric whole genome sequencing: insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis [0.03%]
扩大儿科全基因组测序的实施：SeqFirst提供者的见解，以促进公平地获得精确遗传诊断
Joon-Ho Yu,Katherine E MacDuffie,Olivia Sommerland et al.
Joon-Ho Yu et al.
Whole genome sequencing (WGS) as a diagnostic test offers children suspected of having a rare genetic condition and their families the best direct path toward securing a precise genetic diagnosis (PrGD). Yet, limited supply and inequitable ...