Transcriptomic signatures of rare variant impacts across sex and the X-chromosome [0.03%]
性别和X染色体上稀有变异影响的转录组标志
Rachel A Ungar,Taibo Li,Nikolai G Vetr et al.
Rachel A Ungar et al.
The human X-chromosome contains hundreds of genes and has well-established impacts on sex differences and traits. However, the X-chromosome is often excluded from many genetic analyses, limiting broader understanding of variant effects. In ...
Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy [0.03%]
RP1L1变异体引起隐形黄斑营养不良的临床特征和分子机制
Yang Pan,Daisuke Iejima,Kazutoshi Yoshitake et al.
Yang Pan et al.
Occult macular dystrophy (OMD) is an inherited retinopathy characterized by progressive bilateral vision loss despite normal findings on fundoscopic examination, fluorescein angiography, and full-field electroretinography. Its pathogenesis ...
Breaking Barriers in Rare Disease Research: The RARE-X Open Science Data Challenge as a Model for Collaborative Innovation and Community Partnership [0.03%]
罕见病研究中的破壁行动——RARE-X开放式科学数据挑战计划及其合作创新与社群协作模式
Karmen Trzupek,Ravi Bhargava,Cynthia Kuan et al.
Karmen Trzupek et al.
This paper describes a rare disease Open Science Data Challenge, using data collected systematically on RARE-X across 27 neurodevelopmental disorders. Clinical diagnoses, symptoms, genetic data, and PROs were included. Researchers and stati...
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies [0.03%]
BRCA1/2阴性家庭的遗传性乳腺癌和卵巢癌靶向测序揭示了复杂的基因组结构及表型拷贝现象
Jocelyn N Plowman,Evanjalina J Matoy,Lavanya V Uppala et al.
Jocelyn N Plowman et al.
Published Erratum
HGG advances. 2025 May 23;6(3):100453. DOI:10.1016/j.xhgg.2025.100453 2025
Multidisciplinary stakeholder-informed identification of key characteristics for implementation of workplace genetic testing [0.03%]
基于多学科相关者的工作场所基因检测实施关键特征识别
Elizabeth Charnysh,Kunal Sanghavi,Kerry A Ryan et al.
Elizabeth Charnysh et al.
Workplace genetic testing (wGT) is an evolving model for genetic testing where employees are offered consumer genetic testing through employer-sponsored wellness programs. However, the potential harms, benefits and key characteristics for b...
Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants [0.03%]
常见遗传调节因子影响罕见致病变异携带者的卡氏肌病易感性
Samantha J Klasfeld,Katherine A Knutson,Melissa R Miller et al.
Samantha J Klasfeld et al.
Cardiomyopathy presents a significant medical burden due to frequent hospitalizations and invasive interventions. While cardiomyopathy is considered a rare monogenic disorder caused by rare pathogenic variants in a few genes, emerging evide...
A multi-level gene-diet interaction analysis of fish oil and 14 polyunsaturated fatty acid traits identifies the FADS and GRP12 loci [0.03%]
关于鱼油与14种多不饱和脂肪酸性状的基因-饮食交互分析识别出FADS和GRP12位点
Susan Adanna Ihejirika,Alexandra Huong Chiang,Aryaman Singh et al.
Susan Adanna Ihejirika et al.
Fish oil supplements (FOS) are known to alter circulating levels of polyunsaturated fatty acids (PUFAs) but in a heterogeneous manner across individuals. These varied responses may result from unidentified gene-FOS interactions. To identify...
Mid-pass whole-genome sequencing in a Malagasy cohort uncovers body composition associations [0.03%]
中分辨率全基因组测序在马达加斯加人群中鉴定出与身体组成相关的位点
Iman Hamid,Séverine Nantenaina Stéphie Raveloson,Germain Jules Spiral et al.
Iman Hamid et al.
Published Erratum
HGG advances. 2025 May 15;6(3):100454. DOI:10.1016/j.xhgg.2025.100454 2025
Léo Henches,Jihye Kim,Zhiyu Yang et al.
Léo Henches et al.
Polygenic risk scores (PRSs) models trained from genome-wide association study (GWAS) results are set to play a pivotal role in biomedical research addressing multifactorial human diseases. The prospect of using these risk scores in clinica...
The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency [0.03%]
MCT8缺陷症SLC16A2基因突变个体的表型谱系分析
Kirsty McWalter,Houda Zghal Eloumi,Richard Sidlow et al.
Kirsty McWalter et al.
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked condition caused by pathogenic variants in the SLC16A2 gene, resulting in dysfunctional thyroid hormone transport throughout the body. Human Phenotype Ontology (HPO) terms ...