Human Genetics最新文献

Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects. TWNK的隐性变异通过MtDNA复制缺陷导致综合征和非综合征性突触后听神经病变。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-09-08 DOI: 10.1007/s00439-025-02774-6

Xue Gao, Ying Ma, Wei-Qian Wang, Guo-Jian Wang, Kun Yang, Jin-Cao Xu, Sha-Sha Huang, Xiang Wang, Li-Min Hu, Xi Wang, Qiu-Quan Wang, Zhen-Dong Wang, Ming-Yu Han, Pu Dai, Yong-Yi Yuan

{"title":"Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.","authors":"Xue Gao, Ying Ma, Wei-Qian Wang, Guo-Jian Wang, Kun Yang, Jin-Cao Xu, Sha-Sha Huang, Xiang Wang, Li-Min Hu, Xi Wang, Qiu-Quan Wang, Zhen-Dong Wang, Ming-Yu Han, Pu Dai, Yong-Yi Yuan","doi":"10.1007/s00439-025-02774-6","DOIUrl":"https://doi.org/10.1007/s00439-025-02774-6","url":null,"abstract":"Recessive variants in TWNK cause syndromes arising from mitochondrial DNA (mtDNA) depletion. Hearing loss is the most prevalent manifestation in individuals with these disorders. However, the clinical and pathophysiological features have not been fully elucidated. In this study, we collected five cases of hearing loss carrying bi-allelic TWNK variants from three unrelated Chinese families and identified two cases with isolated auditory neuropathy (AN) and three cases segregating with Perrault syndrome, characterized by AN, global developmental delay, and ovarian dysgenesis in females. All patients with cochlear implantation (CI) show poor speech discrimination outcomes, suggesting that the defect involves post-synaptic sites. In the mouse inner ear, Twinkle was immunolocalized to inner phalangeal cells and spiral ganglion neurons. Additionally, the broad expression pattern of Twinkle was observed in the auditory cortex, which to some extent explains the poor rehabilitation outcomes following CI. At the cellular level, Twinkle is localized at the mtDNA membrane, and the p.(Arg609AlaTer6) variant prevents the protein from reaching the mtDNA while the p.(Arg65Trp) variant exhibits a similar localization to the wild type, indicating a second mechanism of action. RT-PCR results indicated that the canonical transcript was abundant in the inner ear, while the shorter transcript was more abundant in the brain. Our findings revealed that bi-allelic TWNK variants lead to AN, which can be either syndromic or non-syndromic, with the molecular pathogenesis involving defects in mtDNA replication at post-synaptic sites. Patients with TWNK-associated conditions are not ideal candidates for CI and gene therapy may offer a solution for hearingrehabilitation.","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145023167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia. 胎儿先天性膈疝产前诊断的遗传负担和多维预测因素。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-09-06 DOI: 10.1007/s00439-025-02777-3

Ruibin Huang, Fang Fu, Shanshan Mei, Liyuan Liu, Wei Zhong, Jin Han, Qiuxia Yu, Hang Zhou, Chunling Ma, Li Zhen, Min Pan, Qiong Deng, Jianqin Lu, Xinyi Zhao, Na Zhang, Fei Guo, Huanyi Chen, Xinyue Tan, Fucheng Li, Dongzhi Li, Ru Li, Can Liao

{"title":"Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia.","authors":"Ruibin Huang, Fang Fu, Shanshan Mei, Liyuan Liu, Wei Zhong, Jin Han, Qiuxia Yu, Hang Zhou, Chunling Ma, Li Zhen, Min Pan, Qiong Deng, Jianqin Lu, Xinyi Zhao, Na Zhang, Fei Guo, Huanyi Chen, Xinyue Tan, Fucheng Li, Dongzhi Li, Ru Li, Can Liao","doi":"10.1007/s00439-025-02777-3","DOIUrl":"https://doi.org/10.1007/s00439-025-02777-3","url":null,"abstract":"This study aims to assess the genetic burden of fetal congenital diaphragmatic hernia (CDH) and identify prenatal, perinatal, and postnatal predictors to improve early diagnosis, monitoring, and intervention. This study included 130 CDH fetuses who underwent invasive prenatal diagnosis, with fetal prognosis evaluated using imaging parameters such as observed-to-expected lung-to-head ratio (o/e LHR), observed-to-expected total lung volume (o/e TLV), and percent predicted lung volume (PPLV). Clinical outcomes included neonatal outcomes, extracorporeal membrane oxygenation (ECMO) requirement, and post-neonatal prognosis. Logistic regression and receiver operating characteristic (ROC) curve analyses were used to evaluate prognostic indicators and construct predictive models. Chromosomal microarray analysis (CMA) and exome sequencing (ES) yielded diagnostic rates of 7.7% and 8.7%, respectively, identifying a wide spectrum of pathogenic variants and highlighting the genetic heterogeneity of CDH. Among imaging parameters, o/e LHR, o/e TLV, and PPLV were significantly associated with neonatal outcomes, ECMO requirement, and post-neonatal prognosis. Multivariable models incorporating these parameters achieved high predictive accuracy (AUCs > 0.85), with the neonatal outcomes model reaching an AUC of 0.929, sensitivity of 93.2%, and specificity of 78.6%. By integrating genetic, imaging and clinical outcome data, this study identified CMA and ES as key tools for detecting genetic burden in CDH fetuses, and confirmed o/e LHR, o/e TLV, PPLV, and liver herniation as reliable prognostic indicators. Multivariable models based on these parameters showed strong predictive performance. A combined genetic-imaging approach is recommended to support individualized risk assessment and guide perinatal management.","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145006033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

BRCA-CN: a blockchain-based framework to support public variant databases sharing in multi-center community for diagnostic reference and China regulatory science. BRCA-CN：基于区块链的框架，支持多中心社区的公共变体数据库共享，用于诊断参考和中国监管科学。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-08-31 DOI: 10.1007/s00439-025-02764-8

Shoufang Qu, Rongzhi Liu, Shisen Li, Chuanfeng Huang, Yingqian Zhang, Xuan Gao, Pingping Dai, Chao Xu, Rutao Yang, Xuchao Li, Guojun Ouyang, Kang Shao, Xiaoyan Chang, Feng Mu, Meng Yang, Jie Huang

{"title":"BRCA-CN: a blockchain-based framework to support public variant databases sharing in multi-center community for diagnostic reference and China regulatory science.","authors":"Shoufang Qu, Rongzhi Liu, Shisen Li, Chuanfeng Huang, Yingqian Zhang, Xuan Gao, Pingping Dai, Chao Xu, Rutao Yang, Xuchao Li, Guojun Ouyang, Kang Shao, Xiaoyan Chang, Feng Mu, Meng Yang, Jie Huang","doi":"10.1007/s00439-025-02764-8","DOIUrl":"https://doi.org/10.1007/s00439-025-02764-8","url":null,"abstract":"High-quality, regulatory-grade databases for precise genetic variant interpretation are critically needed for Chinese populations, where existing fragmented databases impede clinical effectiveness evaluations. We developed BRCA-CN, a consortium blockchain-based governance framework specifically designed for BRCA gene variant interpretation in Chinese populations. Our framework compiled 66,485 variants from 6,031 samples across six Chinese laboratories. A 15-expert panel conducted systematic variant curation using unified interpretation standards based on ACMG/AMP guidelines. Smart contracts ensured data integrity and accountability throughout the consensus process. After deduplication, we established a comprehensive database of 950 unique variants (BRCA1: 365, BRCA2: 585), completing consensus reviews for 607 sites with 462 achieving definitive interpretations. Comparison with ClinVar revealed 83.6% concordance, with AI validation (PrimateAI, REVEL, EVE) confirming high interpretation accuracy. The blockchain framework successfully enabled secure cross-institutional collaboration while maintaining data sovereignty and regulatory compliance. BRCA-CN demonstrates the transformative potential of blockchain technology in genomic medicine, addressing critical challenges in data sharing, standardization, and regulatory oversight. This framework provides a robust foundation for clinical decision-making and establishes a replicable model for population-specific genomic databases. Access to the BRCA-CN portal, user guides, and test data is provided in the supplementary materials, available at: https://oxygen-chamber.mgi-tech.com/sdb2.","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144952117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The emerging sequence grammar of 3D genome organisation. 新兴的三维基因组组织序列语法。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-08-25 DOI: 10.1007/s00439-025-02772-8

Liezel Tamon, James Ashford, Matthew Nicholls, Marella F T R de Bruijn, Aleksandr B Sahakyan

引用次数: 0

uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia. LDLR基因中产生uag的变异导致轻度家族性高胆固醇血症。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-08-25 DOI: 10.1007/s00439-025-02770-w

Alexandra Filatova, Petr Vasiluev, Evgeniya Osipova, Olga Ivanova, Natalia Semenova, Mikhail Skoblov

{"title":"uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia.","authors":"Alexandra Filatova, Petr Vasiluev, Evgeniya Osipova, Olga Ivanova, Natalia Semenova, Mikhail Skoblov","doi":"10.1007/s00439-025-02770-w","DOIUrl":"https://doi.org/10.1007/s00439-025-02770-w","url":null,"abstract":"Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) levels, leading to early-onset cardiovascular disease. FH is primarily caused by pathogenic variants in the LDLR gene, affecting cholesterol metabolism. We describe a family with a mild form of FH, in which gene panel sequencing identified a novel c.-8C>A variant in the LDLR 5'UTR. To assess its functional impact, we performed a luciferase assay and found that this variant partially reduces LDLR protein translation efficiency by introducing a novel upstream AUG (uAUG) start codon. This partial reduction in LDLR activity is consistent with the mild phenotype observed in the family. Additionally, we analyzed three previously reported LDLR 5'UTR variants (c.-5C>T, c.-14C>A, and c.-23A>C) but did not observe any significant effect on LDLR expression, suggesting that these variants are unlikely to contribute to disease development. These findings highlight the role of 5'UTR variants in LDLR expression and emphasize the importance of functional studies in variant classification for FH diagnostics.","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144952139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Molecular features of AHDC1: insights into an overlooked gene with broad functional potential. AHDC1的分子特征：一个被忽视的具有广泛功能潜力的基因。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-08-22 DOI: 10.1007/s00439-025-02765-7

Silvana Bochicchio, Aurora Mazzetti, Lorenzo Graziani, Gian Gaetano Tartaglia, Stefano Gustincich, Remo Sanges

{"title":"Molecular features of AHDC1: insights into an overlooked gene with broad functional potential.","authors":"Silvana Bochicchio, Aurora Mazzetti, Lorenzo Graziani, Gian Gaetano Tartaglia, Stefano Gustincich, Remo Sanges","doi":"10.1007/s00439-025-02765-7","DOIUrl":"https://doi.org/10.1007/s00439-025-02765-7","url":null,"abstract":"Despite two decades since the completion of the human genome, many genes remain poorly understood, with their functions largely unknown. Among these, AHDC1 stands out as a top-ranking gene in the SFARI database due to its role in the rare and likely underestimated neurodevelopmental disorder, Xia-Gibbs syndrome (XIGIS). First identified in 2014 by Prof. Richard A. Gibbs and his team at Baylor College of Medicine, AHDC1 has historically been understudied. Until July 2023, it was classified as a Tdark gene in the Pharos database, reflecting minimal knowledge of its biological function and the lack of molecular tools for its investigation. However, interest in AHDC1 has grown significantly recently as researchers have strived to uncover the mechanisms underlying XIGIS-associated phenotypes. Recognizing these advances, the Pharos database reclassified AHDC1 as a Tbio gene in 2023, acknowledging its rising significance and the expanding body of research surrounding it. This review consolidates the latest findings on AHDC1, providing an in-depth examination of its genetic structure, regulatory mechanisms, and protein functions while exploring its potential roles in nervous system development and beyond. By compiling existing literature and integrating publicly available data, this review aims to illuminate the broader biological relevance of AHDC1 and its implications for human health and disease.","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144952127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans. DNAH7双等位基因功能缺失变异导致男性不育与人类弱精子症相关。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-08-14 DOI: 10.1007/s00439-025-02766-6

Guicheng Zhao, Jun Ma, Yingteng Zhang, Yan Wang, Chuan Jiang, Gan Shen, Dingming Li, Xiang Wang, Hengzhou Bai, Yi Zheng, Kun Tian, Juntao Yue, Xiaohui Jiang, Ying Shen

{"title":"Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.","authors":"Guicheng Zhao, Jun Ma, Yingteng Zhang, Yan Wang, Chuan Jiang, Gan Shen, Dingming Li, Xiang Wang, Hengzhou Bai, Yi Zheng, Kun Tian, Juntao Yue, Xiaohui Jiang, Ying Shen","doi":"10.1007/s00439-025-02766-6","DOIUrl":"https://doi.org/10.1007/s00439-025-02766-6","url":null,"abstract":"Although variants in DNAH family genes have been suggested as a main contributor to asthenozoospermia in humans, the role of DNAH7 on male fertility remains largely unexplored. In this study, loss-of-function variants in DNAH7 were identified in two unrelated infertile men with asthenozoospermia through whole exome sequencing, including compound heterozygous variants c.9702_9705del (p.Phe3234Leufs*52) and c.768G > A (p.Trp256*) in Patient 1, and compound heterozygous variants c.5650 C > T (p.Arg1884*) and c.768G > A (p. Trp 256*) in Patient 2. Interestingly, transmission electron microscopy results indicated a severe loss of inner dynein arms (IDAs) in the sperm flagella of both patients. Furthermore, immunofluorescent staining revealed a marked reduction of DNAH7 and other IDA-associated proteins, such as DNAH3 and DNAH6, in the patients' spermatozoa. In contrast, the expression of the outer dynein arms (ODA)-associated proteins, including DNAH8, DNAH11, DNAH17 and DNAI1, was comparable to that in normal controls. Moreover, the infertility of the patients harboring DNAH7 mutations could be successfully overcome by intracytoplasmic sperm injection treatment. Taken together, our findings confirmed that DNAH7 variants may contribute to asthenozoospermia by affecting flagellar IDA assembly, thereby enhancing our understanding of phenotype-genotype correlations in male infertility.","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144855068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea. 直接连接蛋白26与耳蜗功能相关的膜蛋白相互作用。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-08-13 DOI: 10.1007/s00439-025-02769-3

Jennifer Costa Leoncio, Ana Carla Batissoco, Thiago Geronimo Pires Alegria, Fernando Gomes, Luis Eduardo Soares Netto, Regina Célia Mingroni-Netto, Luciana Amaral Haddad

{"title":"Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea.","authors":"Jennifer Costa Leoncio, Ana Carla Batissoco, Thiago Geronimo Pires Alegria, Fernando Gomes, Luis Eduardo Soares Netto, Regina Célia Mingroni-Netto, Luciana Amaral Haddad","doi":"10.1007/s00439-025-02769-3","DOIUrl":"https://doi.org/10.1007/s00439-025-02769-3","url":null,"abstract":"Connexin 26, the protein encoded by the GJB2 (Gap junction protein beta 2) gene, is expressed in different tissues, including the cochlea and skin. Pathogenic DNA alterations in GJB2 cause autosomal recessive nonsyndromic hearing loss, whereas some GJB2 variants may lead to deafness-associated skin disorders. Genes encoding proteins of the Connexin26 molecular complex may fit as candidates to explain genetic hearing loss of yet unknown etiology. In search for Connexin26 direct protein partners, 120 million clones of a human fetal brain cDNA library were screened for interaction with full-length Cx26 in a membrane yeast two-hybrid assay. Each Connexin26-interacting protein was submitted to a pipeline of in-silico characterization yielding a total of 40 direct interactors. It was disclosed that the mouse Gjb2 gene orthologue is coexpressed with 38 (95%) and 28 (70%) of the genes encoding Connexin26 interactors, respectively in specific cochlea cell types and embryonic keratinocytes. Interactors expressed in the organ of Corti supporting cells are significantly enriched in the gene ontology class of proteins with transporter activity (N = 10; 26%), seven of which are ion transporters. Nine interactor-encoding genes are either associated with deafness and/or skin disorders or have chromosomal mapping overlapping non-syndromic hearing loss-related loci. Altogether, the Connexin26 membrane interaction network highlights proteins with biological relevance to the physiology of cochlea and skin.","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mutation-aware formulation: a genomic framework for equitable global dermocosmetics. 突变感知公式：公平的全球皮肤化妆品的基因组框架。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-08-13 DOI: 10.1007/s00439-025-02771-9

Eqram Rahman, William Richard Webb, Parinitha Rao, Jean D A Carruthers

{"title":"Mutation-aware formulation: a genomic framework for equitable global dermocosmetics.","authors":"Eqram Rahman, William Richard Webb, Parinitha Rao, Jean D A Carruthers","doi":"10.1007/s00439-025-02771-9","DOIUrl":"https://doi.org/10.1007/s00439-025-02771-9","url":null,"abstract":"Despite advances in dermatogenomics, the global skincare industry continues to rely on generalized formulation strategies that overlook population-specific genetic variation. This study introduces a mutation-aware framework that bridges this translational gap through two novel metrics: the Mutation Burden Index (MBI)-which quantifies regional genetic vulnerability across nine core skin function domains-and the Population Compatibility Burden (PCB)-which measures the alignment between current commercial formulations and regional genomic needs. Using a curated database of more than 200 authenticated cosmeceutical products, we mapped ingredient functionality against regional MBI profiles. Results reveal a stark compatibility gap: regions with the highest burden (e.g., Africa, South Asia) receive the least functionally aligned products, with average compatibility scores as low as 0.35. In contrast, Europe-despite lower burden-achieves scores > 0.70. Simulated formulations informed by MBI scores increased compatibility to > 0.80 in underserved regions, demonstrating the potential for 50% gains in biological relevance without individualized genotyping. A machine learning classifier trained on MBI vectors achieved strong performance (F1 = 0.837), and SHAP-based interpretation highlighted barrier and pigmentation pathways as key drivers of product-region mismatch. In contrast to commercial AI platforms offer black-box personalization with minimal genomic input and no interpretability, our model provides transparent, biologically grounded, and reproducible formulation logic. By repositioning personalization from individual-level luxury to population-scale equity, this work establishes a practical foundation for genomically aligned skincare-anchored in functional biology, enabled by AI, and designed for global impact.","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction: An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance. 更正：对蛋白质家族特异性变异数据进行训练的增强变压器模型可以改进对不确定意义变异的预测。

IF 3.6 2区生物学

Human Genetics Pub Date : 2025-08-12 DOI: 10.1007/s00439-025-02767-5

Dinesh Joshi, Swatantra Pradhan, Rakshanda Sajeed, Rajgopal Srinivasan, Sadhna Rana

引用次数: 0