Correction: An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance [0.03%]
纠正：基于蛋白质家族特异性变异数据训练的增强型变压器模型可改善意义未知变异的预测结果
Dinesh Joshi,Swatantra Pradhan,Rakshanda Sajeed et al.
Dinesh Joshi et al.
Published Erratum
Human genetics. 2025 Aug 12. DOI:10.1007/s00439-025-02767-5 2025
Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression [0.03%]
通过基因组和分子证据表明长链非编码RNA DSP-AS1能够调节桥粒斑蛋白的表达
Luisa Foco,Marzia De Bortoli,Fabiola Del Greco M et al.
Luisa Foco et al.
Cardiac desmosomes are specialized cell junctions responsible for cardiomyocytes mechanical coupling. Mutation in desmosomal genes cause autosomal dominant and recessive familial arrhythmogenic cardiomyopathy. Motivated by evidence that Men...
Characterizing the HLA region's genetic architecture through local heritability and correlation analyses across complex traits in diverse ancestries [0.03%]
通过复杂性状的局部遗传率和跨不同谱系的相关分析表征HLA区域的遗传结构
Menghan Wei,Yunjia Liu,Yunqi Huang et al.
Menghan Wei et al.
The human leukocyte antigen (HLA) region is a critical genetic locus associated with diverse complex traits, yet its intricate genetic architecture poses significant challenges to elucidation. Leveraging recent advances in regional heritabi...
FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A [0.03%]
FBRSL1调节染色质调控因子BRPF1和KAT6A的表达
Gina Kastens,Hanna Berger-Santangelo,Sarah Gerstner et al.
Gina Kastens et al.
FBRSL1-associated syndrome is a rare congenital malformation and intellectual disability syndrome caused by heterozygous truncating variants in Fibrosin-Like 1 (FBRSL1). While FBRSL1 is known to be involved in embryonic development, its pre...
Efficacy of delandistrogene moxeparvovec on Duchenne muscular dystrophy: a systematic review and meta-analysis [0.03%]
德拉兰斯特罗基因莫克帕露威克治疗杜氏肌营养不良症的有效性：系统评价和meta分析
Carlos Pascual-Morena,Silvana Patiño-Cardona,Irene Martínez-García et al.
Carlos Pascual-Morena et al.
Chenyu Zhao,Keqiang Ma
Chenyu Zhao
Current perspectives on gene therapy and its involvement in curing genetic disorders [0.03%]
基因治疗的最新观点及其在治愈遗传性疾病中的作用
Shireen Nishad,Dipali Dongare,Sayani Saha et al.
Shireen Nishad et al.
Genomics is revolutionizing medical science, offering transformative potential for the future of medicine. Advances in whole-genome sequencing have deepened our understanding of genome structure and function, paving the way for genomic medi...
Integrating gene mutation spectra from tumors and the general population with gene expression topological networks to identify novel cancer driver genes [0.03%]
整合肿瘤和普通人群的基因突变光谱与基因表达拓扑网络以识别新的癌症驱动基因
Shuangyu Yang,Dan He,Ling Li et al.
Shuangyu Yang et al.
Discovering cancer driver genes is critical for improving survival rates. Current methods often overlook the varying functional impacts of mutations. It is necessary to develop a method integrating mutation pathogenicity and gene expression...
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study [0.03%]
PROK2/PROKR2的表型谱系扩展：一种通过基因型追访的研究
Maria I Stamou,Crystal J Chiu,Shreya V Jadhav et al.
Maria I Stamou et al.
Rare variants in prokineticin 2 pathway genes (PROK2; PROKR2), cause isolated hypogonadotropic hypogonadism (IHH) in humans, leading to pubertal failure and infertility. In addition to reproduction, this pathway is also implicated in cardio...
Is cross-border transfer of China's human genetic data an impossible mission? [0.03%]
中国人类遗传资源材料出境面临困境吗？
Jiajv Chen,Wei Li
Jiajv Chen
Cross-border transfer of human genetic data is a crucial prerequisite for sharing such data globally. However, given the unique nature of human genetic data, this aspiration may not be easily realized. China, a country rich in biological re...