The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics [0.03%]
超高通量RNA测序在单基因病诊断中的应用价值评估研究
Sen Zhao,Jefferson C Sinson,Shenglan Li et al.
Sen Zhao et al.
RNA sequencing (RNA-seq) has emerged as a powerful tool for resolving variants of uncertain significance (VUSs), particularly those affecting gene expression and splicing. However, most reference datasets and diagnostic protocols employ rel...
COMPADRE: Combined pedigree-aware distant relatedness estimation for improved pedigree reconstruction [0.03%]
一种用于改进系谱重建的结合了亲缘关系意识的远交估计方法
Grahame F Evans,James T Baker,Lauren E Petty et al.
Grahame F Evans et al.
Designing powerful and unbiased genomic studies requires accurate assessment of familial relatedness even when this information is not captured from participants. Characterization of pairwise degrees of relatedness from participants' geneti...
Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios [0.03%]
通过分析818个 trio中导致蛋白质改变的从头变异来区分综合型和非综合型裂腭症
Kelsey R Robinson,Sarah W Curtis,Justin E Paschall et al.
Kelsey R Robinson et al.
De novo variants (DNs) are sporadically occurring variants found in an offspring but absent in both parents. DNs most commonly arise in the germline and are not under selective pressure; therefore, they may be enriched for disease-causing a...
A scalable approach for genomic-first rare disorder detection in a healthcare-based population [0.03%]
一种在基于医疗保健的人群中检测罕见疾病的可扩展的基因组优先方法
Rebecca I Torene,Karyn Meltz Murphy,Tracy Brandt et al.
Rebecca I Torene et al.
Our understanding of rare genetic disorders (RGDs) comes largely from clinically ascertained individuals. Genomic-first ascertainment, however, can identify individuals with monogenic RGDs who were not ascertained clinically and enhance our...
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B [0.03%]
由EIF3复合体成分基因EIF3A和EIF3B失活突变引起的以心血管、颅面及神经发育异常为特征的疾病
Esra Erkut,Cherith Somerville,Marci L B Schwartz et al.
Esra Erkut et al.
Syndromic cardiac malformations can result in morbidity, yet their genetic etiology is only understood for a subset of individuals. Genome sequencing efforts in congenital anomaly cohorts may identify disease-associated variants in previous...
Local ancestry-informed GWAS of warfarin dose requirement in African Americans identifies a CYP2C19 splicing QTL [0.03%]
基于局部祖先信息的华法林剂量需求的全基因组关联研究在非裔美国人中鉴定出一个CYP2C19剪接位点顺式调控遗传变异
Anmol Singh,Cristina Alarcon,Edith A Nutescu et al.
Anmol Singh et al.
African Americans (AAs) are underrepresented in pharmacogenomics research, which has led to a significant gap in knowledge. Through admixture, AAs can inherit specific loci from either their African or European ancestors, known as local anc...
Multiple-testing corrections in selection scans using identity-by-descent segments [0.03%]
利用同一祖先片段进行选择扫描的多重比较校正方法
Seth D Temple,Sharon R Browning
Seth D Temple
Failing to correct for multiple testing in selection scans can lead to false discoveries of recent genetic adaptations. The scanning statistics in selection studies are often too complicated to theoretically derive a genome-wide significanc...
Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing [0.03%]
VHL外显子2突变对红细胞增多症或von Hippel-Lindau病的影响及其参与VHL剪接的RNA结合蛋白的作用机制研究
Valéna Karaghiannis,Loïc Schmitt,Franck Chesnel et al.
Valéna Karaghiannis et al.
This study explores the impact of mutations in the exon 2 of the von Hippel-Lindau (VHL) gene, associated with erythrocytosis or von Hippel-Lindau disease. We analyzed 15 missense and synonymous genetic variants to assess their effects on s...
Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits [0.03%]
骨骼肌eQTL荟萃分析揭示了肌肉和心血管元性疾病基因架构中的基因作用
Emma P Wilson,K Alaine Broadaway,Victoria A Parsons et al.
Emma P Wilson et al.
Identifying genetic variants that regulate gene expression can help uncover mechanisms underlying complex traits. We performed a meta-analysis of skeletal muscle expression quantitative trait locus (eQTL) using data from 1,002 individuals f...
The Indian Ocean slave trade and colonial expansion resulted in strong sex-biased admixture in South Africa [0.03%]
印度洋奴隶贸易和殖民扩张导致南非性别偏向性渗入
Austin W Reynolds,Haiko Schurz,Gillian Meeks et al.
Austin W Reynolds et al.
The colonial-period arrival of Europeans in southern Africa is associated with strong sex-biased migration by which male settlers displaced Indigenous Khoekhoe and San men. Concurrently, the importation of enslaved individuals from South As...