Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia [0.03%]
基于全基因组序列的非洲裔美国人双相情感障碍和精神分裂症关联分析
Runjia Li,Sarah A Gagliano Taliun,Kevin Liao et al.
Runjia Li et al.
In studies of individuals of primarily European genetic ancestry, common and low- frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is k...
Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders [0.03%]
靶向血浆蛋白质组学发现与KIF5A相关的SPG10和ALS谱系疾病的关联蛋白
Jarosław Dulski,Arun K Boddapati,Barbara Risi et al.
Jarosław Dulski et al.
KIF5A (Kinesin family member 5A) is a motor protein that functions as a key component of the axonal transport machinery. Variants in KIF5A are linked to several neurodegenerative diseases, mainly spastic paraplegia type 10 (SPG10), Charcot-...
Claire M Kittock,Krishna Karia,Pratiksha Kc et al.
Claire M Kittock et al.
The increasing availability and affordability of genetic testing has resulted in the identification of numerous novel variants associated with neurodevelopmental disorders. There remains a need for methods to analyze the functional impact o...
Genetic Rare Disease Prevention and Control: Family-Based Screening and Reproductive Interventions in Changsha [0.03%]
遗传罕见病防治策略——基于家庭的筛查与生殖干预（以长沙市为例）
Ge Lin,Jun He,Yuankun Wang et al.
Ge Lin et al.
Rare diseases pose a significant public health challenge, particularly in underserved regions such as China, where genomic diagnostic services and post-diagnosis management remain limited. This study assessed the effectiveness of a rare dis...
Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome [0.03%]
杂合体角蛋白32变异导致常染色体显性遗传的松发综合征
Marcelo Melo,Elizabeth Phillippi,Thomas Moninger et al.
Marcelo Melo et al.
Loose Anagen Hair Syndrome is a form of childhood-onset non-scarring alopecia marked by easily and painlessly pluckable terminal hair during its active growth - anagen - phase and believed to result from poor hair shaft anchoring within the...
FAHD1-Mediated Pyruvate Metabolism in hepatocellular carcinoma: Multi-Omics and Causal Genetic Evidence [0.03%]
肝细胞癌中FAHD1介导的丙酮酸代谢：多组学和因果遗传证据
Jin Huang,Shijie Liang,Jiamin Sun et al.
Jin Huang et al.
Hepatocellular carcinoma (HCC) progression is driven by metabolic reprogramming in the tumor microenvironment (TME), yet the causal regulators of pyruvate metabolism and their spatial interplay remain elusive. Here, we integrate single-cell...
Overlap between COPD genetic association results and transcriptional quantitative trait loci [0.03%]
COPD遗传关联结果与转录定量特征位点的重叠性研究
Aabida Saferali,Wonji Kim,Robert P Chase;NHLBI TransOmics in Precision Medicine (TOPMed);Chris Vollmers et al.
Aabida Saferali et al.
Genome-wide association studies (GWAS) have identified multiple genetic loci associated with chronic obstructive pulmonary disease (COPD). Here, we identify SNPs that are associated with alternative splicing (sQTL) and gene expression (eQTL...
Investigating the Role of Neighborhood Socioeconomic Status and Germline Genetics on Prostate Cancer Risk [0.03%]
探究居住地经济社会地位和胚系基因对前列腺癌风险的作用
Jonathan Judd,Jeffrey P Spence,Jonathan K Pritchard et al.
Jonathan Judd et al.
Genetic factors play an important role in prostate cancer (PCa) development with polygenic risk scores (PRS) predicting disease risk across genetic ancestries. However, there are few convincing modifiable factors for PCa and little is known...
Early onset multivalvular disease caused by a missense variant in lamin A/C [0.03%]
早发性多瓣膜病由突变的核纤层蛋白A/C引起
Alexandre Janin,Nathalie Gaudreault,Victoria Saavedra Armero et al.
Alexandre Janin et al.
Lamins A/C, coded by LMNA gene, are crucial for nuclear architecture preservation. Pathogenic LMNA variants cause a wide range of inherited diseases called "laminopathies". A subgroup is referred to "progeroid syndromes" characterized by pr...
Variational Autoencoder-based Model Improves Polygenic Prediction in Blood Cell Traits [0.03%]
变分自编码器模型可改善血液细胞表型多基因预测能力
Xiaoqi Li,Elena Kharitonova,Minxing Pang et al.
Xiaoqi Li et al.
Genetic prediction of complex traits, enabled by large-scale genomic studies, has created new measures to understand individual genetic predisposition. Polygenic Risk Scores (PRS) offer a way to aggregate information across the genome, enab...