A National Biobank Framework for Rare Diseases: Standardized Infrastructure and Cross-Institutional Collaboration Accelerating Translational Innovation in China [0.03%]
中国罕见病国家生物样本库框架：标准化基础设施和跨机构合作加速转化创新在中国
Weida Liu,Ye Jin,Yaran Zhang et al.
Weida Liu et al.
Rare diseases (RDs) collectively affect >400 million people worldwide, but fragmented infrastructure and biospecimen scarcity impede progress. China's heterogeneous healthcare landscape magnifies these challenges. Since 2016, the ISO 20387:...
Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK [0.03%]
LNPK神经发育疾病基因的双等位剪接位点突变导致外显子跳过
Rose M Doss,Sara A Wirth,Jonathan W Pitsch et al.
Rose M Doss et al.
Homozygous loss-of-function mutations in LNPK, the gene encoding the endoplasmic reticulum-associated protein lunapark, have previously been linked to an autosomal recessive neurodevelopmental syndrome. Here, we describe an individual harbo...
CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly [0.03%]
CUL1变异引起严重神经发育障碍：人类遗传学及小头畸形斑马鱼模型的启示
Haoling Xu,Zhen Liu,Fadi F Hamdan et al.
Haoling Xu et al.
Microcephaly is a neurodevelopmental anomaly characterized by reduced head circumference and impaired brain growth, often accompanied by intellectual disability (ID), developmental delays, and seizures. While numerous genes have been implic...
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models [0.03%]
利用深度临床表型和果蝇模型解析SLC6A1的表达多变性
Kristy L Jay,Nikhita Gogate,Paige I Hall et al.
Kristy L Jay et al.
Variants in SLC6A1 result in a rare neurodevelopmental disorder characterized by a variable clinical presentation of symptoms including developmental delay, epilepsy, motor dysfunction, and autism spectrum disorder. SLC6A1 haploinsufficienc...
Multi-trait genome-wide analysis identified risk loci and candidate drugs for heart failure [0.03%]
多性状全基因组分析鉴定出心力衰竭的风险位点和候选药物
Zhengyang Yu,Maohuan Lin,Zhanyu Liang et al.
Zhengyang Yu et al.
Heart failure (HF) is a common cardiovascular syndrome that poses significant morbidity and mortality risks. While genome-wide association studies reporting on HF abound, its genetic etiology remains poorly elucidated, primarily due to its ...
Discovery of disease-associated cellular states using ResidPCA in single-cell RNA and ATAC sequencing data [0.03%]
基于单细胞RNA和ATAC测序数据的疾病相关细胞状态的发现
Shaye Carver,Kodi Taraszka,Stefan Groha et al.
Shaye Carver et al.
To advance understanding of cellular heterogeneity in disease from single-cell sequencing data, we introduce Residual Principal Component Analysis (ResidPCA), a robust method for identifying cell states that explicitly models cell type hete...
Detailed Assessment of Rare and Common TERT Variation in a Family with a Telomere Biology Disorder [0.03%]
TERT罕见和常见变异在一种端粒生物学障碍家庭中的详细评估
Logan P Zeigler,Oscar Florez-Vargas,Burak Altintas et al.
Logan P Zeigler et al.
Telomere biology disorders (TBDs) are caused by rare pathogenic variants in telomere maintenance genes and often present with variable penetrance of multi-organ system manifestations. We evaluated a family with 14 individuals heterozygous f...
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity [0.03%]
功能表征致病性SATB2错义变异体揭示了对染色质结合和转录活性的差异效应
Joery den Hoed,Fleur Semmekrot,Jolijn Verseput et al.
Joery den Hoed et al.
SATB2-associated syndrome is an autosomal dominant neurodevelopmental syndrome caused by genetic alterations in the transcription factor SATB2. The associated phenotype is variable, and genotype-phenotype correlation studies have not yet be...
Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes [0.03%]
QSER1基因的拼接和框移变异可能与发育表型有关
Megan C Fischer,Linda M Reis,Jerica Lenberg et al.
Megan C Fischer et al.
Human development is a complex process that requires precise control of gene expression through regulatory proteins. Recently, heterozygous variants in PRR12, encoding a proline-rich regulatory protein, were found to cause a variable phenot...
Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing [0.03%]
通过纳米孔长读测序表征天然CpG甲基化进行精细定位调节变异体
Yijun Tian,Shannon K McDonnell,Lang Wu et al.
Yijun Tian et al.
5-methylcytosine is the most common DNA modification in the human genome. Bisulfite conversion combined with short-read sequencing captures this modification at single-nucleotide resolution, but introduces PCR duplication bias and limits co...