Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations [0.03%]
RNU6ATAC biallelic变异导致一种次要剪接体疾病其特征是转录组范围内的次要内含子滞留事件及不同程度的多系统表现的矮小症
Rodrigo Mendez,Taylor M Arriaga,Jialan Ma et al.
Rodrigo Mendez et al.
We report three individuals with biallelic variants in RNU6ATAC, which encodes the U6atac minor spliceosomal small nuclear RNA (snRNA), causing a multisystem minor spliceopathy. Through RNAseq analysis, we identified a distinctive excess of...
"I Make My Own Decisions": Views on Precision Medicine Research Participation Decisions from Adults with Intellectual Disability [0.03%]
“自己的决定自己做主”——智力障碍成年人对精准医疗研究参与决策的观点
Katherine E McDonald,Eulena Banzer,Mark Cooley et al.
Katherine E McDonald et al.
Autonomy is a leading indicator of well-being and a cornerstone principal of research ethics. Yet adults with intellectual disability are routinely denied autonomy in research settings, affecting participation and generalizability. To infor...
A simple approach for multiple observations improves power to detect genetic effects and genomic prediction accuracy [0.03%]
一种简单的多次观察方法可提高检测遗传效应和基因组预测准确性的能力
Luke M Evans,Christopher H Arehart,Raine A Gibson et al.
Luke M Evans et al.
Many datasets, including widely used biobanks, have more than one observation of numerous phenotypes for at least a portion of their sample. The majority of GWAS utilize only a single observation per individual, even when more than one obse...
Epigenome-Wide Association Study of Blood Proteome in the Atherosclerosis Risk in Communities Study [0.03%]
动脉粥样硬化队列的表观基因组与血浆蛋白关系研究
Yang Li,Aditya Surapaneni,Zulema Rodriguez-Hernandez et al.
Yang Li et al.
Characterizing the relationship between DNA methylation and circulating proteins is critical to understanding the epigenetic regulation of the human plasma proteome. Here, we performed an epigenome-wide association study (EWAS) of 5,032 cir...
Gene Specific Pathogenicity Predictor for Chromatin Remodeling BAF Complex-Associated Neurodevelopmental Disorders [0.03%]
染色质重塑BAF复合体相关神经发育障碍的基因特异性致病性预测模型
Joshua Hack,Mohammad Nazim
Joshua Hack
Advancements in whole genome sequencing have increased the number of variants of uncertain significance (VUS) identified in human genomes. This has created a diagnostic bottleneck for genetic counselors tasked with sifting through these var...
Genome-wide investigation of prosody perception: evidence for shared genetic influences between speech rhythm, musical rhythm, and reading traits [0.03%]
韵律感知的全基因组研究：语音节奏、音乐节奏和阅读特征之间共享遗传影响的证据
Alyssa C Scartozzi,Youjia Wang,Peyton L Coleman et al.
Alyssa C Scartozzi et al.
Prosody perception is an often overlooked aspect of human language despite its importance in facilitating spoken language comprehension. Sensitivity to prosodic cues varies between individuals, and prosody perception skills are shown to be ...
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care [0.03%]
规模化基因组再分析以解锁诊断并转化罕见病治疗方式
Shira Rockowitz,Wanqing Shao,Courtney French et al.
Shira Rockowitz et al.
Genomic reanalysis can identify causative variants for rare diseases as patient phenotypes evolve and gene-disease knowledge expands. Despite its diagnostic value, routine reanalysis is limited by clinician capacity, lack of patient follow-...
Patient-informed CRISPR Screen Identifies FLNB as a Congenital Heart Disease and Ciliopathy Gene [0.03%]
患者知情的CRISPR筛选鉴定出FLNB为先天性心脏病和纤毛病基因
Angelo Arrigo,Venkatraman Rao,Aakrosh Ratan et al.
Angelo Arrigo et al.
Heterotaxy (HTX) is a congenital disorder characterized by abnormal left-right organ placement, often leading to severe congenital heart disease (CHD). Despite advances in sequencing, many CHD and HTX-associated genes remain functionally un...
A reference panel for linkage disequilibrium and genotype imputation using whole-genome sequencing data from 2,680 participants across India [0.03%]
基于来自印度各地的2,680名参与者全基因组测序数据构建用于连锁不平衡和基因型分型的参考面板
Zheng Li,Wei Zhao,Xiang Zhou et al.
Zheng Li et al.
India is the most populous country globally, yet genetic studies involving Indian individuals remain limited. The Indian population is composed of many founder groups and has a mixed genetic ancestry, including an ancestral component not ob...
Identification of Alternative Splicing in WFS1 Associated with Low-Frequency Hearing Loss in Common Marmoset [0.03%]
与常见绒猴低频听力损失相关的WFS1可变剪接的鉴定
Shu Yokota,Hidekane Yoshimura,Shin-Ya Nishio et al.
Shu Yokota et al.
Approximately 200 genes have been identified as causative in hereditary hearing loss. Genetic testing is increasingly important-not only for accurate diagnosis but also for predicting audiometric profiles, prognoses, and potential syndromic...