Two Commonly Reported Incidental Variants in OTC are Associated with Late-Onset Disease [0.03%]
OTC两种常见的意外变异与晚期发病相关
Steven H Lang,Russell S Lo,Gareth A Cromie et al.
Steven H Lang et al.
Asymptomatic individuals with pathogenic variants in OTC are increasingly being identified through cascade testing, carrier screening, or as secondary findings from genome-wide sequencing tests. However, guidance for counseling and manageme...
GrafAnc: Reliable and Reproducible Inference of Continental and Regional Population Structure [0.03%]
GrafAnc：可靠且可重复的推断大陆和区域人群结构
Yumi Jin,Hui Wang,Adam C Naj et al.
Yumi Jin et al.
Accurate inference of genetic ancestry is a fundamental step in population genetics, disease association studies, and understanding human history. However, most existing tools, whether model-based or model-free, are limited by dataset-speci...
Admixture Mapping Analysis Reveals Genetic Determinants of the Human Plasma Proteome [0.03%]
基因组混合分析揭示了人类血浆蛋白质遗传决定因子
Daniel E Cruz,Shuliang Deng,Usman A Tahir et al.
Daniel E Cruz et al.
Protein profiling and genetic findings can be integrated to define the genetic architecture of the circulating proteome in chronic diseases. Most self-identified African American (AA) individuals have both African and European genetic ances...
Colon Cancer in Appalachian Kentucky: Unique Genetic, Microbiome and Obesity Findings in a Cohort Comparison [0.03%]
肯塔基阿巴拉契亚地区的结直肠癌：队列比较中的独特遗传、微生物群和肥胖研究发现
Zeta Chow,Jinpeng Liu,Daheng He et al.
Zeta Chow et al.
We investigated colon cancer genomics and microenvironmental features in the Appalachian Kentucky population, a group with the highest incidence of colon cancer in the United States. We assessed two inter-related risk factors for colon canc...
A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements [0.03%]
候选基因RBM15的新发无义突变与先天性镜像运动障碍的关系研究
Frederike L Harms,Fanny Kortüm,Malik Alawi et al.
Frederike L Harms et al.
Congenital mirror movements (CMM) are involuntary movements of one body side that mirror intentional movements of the opposite side. DCC, NTN1, RAD51, ARHGEF7, and DNAL4 have been associated with CMM. Two thirds of CMM-affected individuals ...
Phasing millions of samples achieves near perfect accuracy, enabling parent-of-origin analyses [0.03%]
对百万样本进行相位分型达到近乎完美的准确度，可实现亲本起源分析
Cole M Williams,Jared O&#x;Connell,Ethan Jewett et al.
Cole M Williams et al.
Published Erratum
HGG advances. 2025 Oct 3;7(1):100526. DOI:10.1016/j.xhgg.2025.100526 2025
Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder [0.03%]
BCAT1双等位基因变异体损害线粒体功能并与疑似神经元代谢障碍相关
Brianna L DiSanza,Giulia S Porcari,Livia Sertori Finoti et al.
Brianna L DiSanza et al.
Branched-chain amino acid transaminase-1 (BCAT1) initiates the catabolism of branched-chain amino acids (BCAA), which are essential for neurologic function. However, the role of BCAT1 in neurodevelopment is largely unknown. Here, we identif...
Accurate DNA Methylation Predictor for C9orf72 Repeat Expansion Alleles in the Pathogenic Range [0.03%]
C9orf72致病范围重复扩增等位基因的准确DNA甲基化预测器
Naren Ramesh,Alexandria Evans,Kevin Wojta et al.
Naren Ramesh et al.
The hexanucleotide (G4C2) repeat expansion in the promoter region of C9orf72 is the most frequent genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study, we conducted a genome-wide DNA methylat...
Researcher Attitudes towards Hypothetical Genetic Research with Navajo People: Results from an Online Survey [0.03%]
关于纳瓦霍人遗传研究的概念态度——一项在线调查的结果
Carissa A Sherman,Nanibaa&#x; A Garrison,Katrina G Claw
Carissa A Sherman
The Navajo Nation is reevaluating a moratorium on genetic research that was authorized in 2002. While the moratorium was instituted due to cultural concerns and the lack of a Navajo genetic research policy, there remains limited empirical w...
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome [0.03%]
基于TCOF1基因内含子区的长readsDNA和RNA测序揭示了回文末端重复序列插入导致TreacherCollins综合征的原因
Federico Ferraro,Nikolas Kühn,Dmitrijs Rots et al.
Federico Ferraro et al.
Treacher Collins syndrome (TCS) is a craniofacial genetic disorder caused by loss of function variants in TCOF1, POLR1B, POLR1C or POLR1D. Here we describe two previously undiagnosed paternal half-siblings affected with clinical TCS, and th...