No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism [0.03%]
基因祖先与基于外显子组测序的先天性代谢错误诊断无关
J Najera,Y Mavura,A Adhikari et al.
J Najera et al.
Inborn errors of metabolism (IEMs) are severe genetic disorders caused by disruptions in metabolic pathways, frequently presenting in early life. Exome (ES) and genome (GS) sequencing have revolutionized the diagnostic approach for Mendelia...
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery [0.03%]
基于光学基因组映射的拷贝数变异引导的结构变异全鉴定方法
Li Fu,Chong Ae Kim,Masatoshi Tokita et al.
Li Fu et al.
Structural variants (SVs), including duplications, deletions, inversions, translocations, and insertions, play major roles in human phenotypic diversity but remain difficult to detect because of variable size and structural complexity. Opti...
Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome [0.03%]
出版更正：长读技术鉴定出一种隐藏的LINE-1 / ERV1插入，该插入是IQCB1的导致Senior-Løken综合征的原因变异体
Suzanne E de Bruijn,Van den Born L Ingeborgh,Ronny Derks et al.
Suzanne E de Bruijn et al.
Published Erratum
NPJ genomic medicine. 2026 Mar 24;11(1):15. DOI:10.1038/s41525-026-00559-y 2026
Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome [0.03%]
PTEN错构瘤肿瘤综合征患者恶性表型和神经发育障碍的基因组修饰因素
Lamis Yehia,Lin Li,Gideon Idumah et al.
Lamis Yehia et al.
PTEN hamartoma tumor syndrome (PHTS), caused by germline PTEN variants, exhibits marked phenotypic heterogeneity, most notably cancer, neurodevelopmental disorders (NDD), or both. The basis for this divergence, even among carriers of identi...
Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders [0.03%]
与神经发育障碍相关的新型GABBR1和GABBR2变异体的功能特征
Michal Stawarski,Noa Bielopolski,Ilana Roitman et al.
Michal Stawarski et al.
GABAB receptors, the G protein-coupled receptors for the neurotransmitter GABA, are essential for regulating neuronal excitability in the brain. Monoallelic de novo missense variants in GABBR1 and GABBR2, which encode the receptor subunits,...
Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes [0.03%]
整合模拟预测和临床证据分析HiFi长读测序在旁系同源基因中的能力
Sung Kyung Kim,Joowon Jang,Yeseul Kim et al.
Sung Kyung Kim et al.
Paralogous genes challenge short-read sequencing (SRS) due to high sequence similarity. Although long-read sequencing (LRS) improves resolution, the extent to which it resolves paralogous genes remains unclear. This study evaluates the capa...
Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability [0.03%]
MTNAP1基因变异通过干扰线粒体稳定性而导致神经退行性疾病
Abhishek Kumar,Smita Saha,Nazim Nasir et al.
Abhishek Kumar et al.
Mutations in genes encoding mitochondrial proteins are increasingly recognized as a major cause of neurodegenerative disorders, owing to the role of mitochondria in neuronal energy metabolism and signaling. Here, we investigate MTNAP1 (mito...
Barış Kayaalp,Meltem Ece Kars,Yuval Itan et al.
Barış Kayaalp et al.
We leveraged allele frequencies from gnomAD, Regeneron Genetics Center Million Exome and Turkish Variome for 4591 disease genes from PanelApp and OMIM, and identified 97,135 pathogenic and 478,263 likely pathogenic variants using an America...
Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study [0.03%]
数字化时代大规模新生儿基因组筛查决策支持研究：BabyScreen+计划
Lilian Downie,Jade Caruana,Nathasha Kugenthiran et al.
Lilian Downie et al.
Digital platforms hold promise to scale implementation of population screening. We tailored the Genetics Adviser platform to provide education, decision support, consent, and result return in a genomic newborn screening (gNBS) study, BabySc...
Semi-automated genomic newborn screening highlights complexities in reporting [0.03%]
半自动基因组新生儿筛查揭示了报告的复杂性
Ayesha Chowdhury,Shashikanth Marri,Lucy Anastasi et al.
Ayesha Chowdhury et al.
Newborn screening programs are instrumental in the early detection of treatable conditions in the first days of life. By integrating genomic approaches, there is potential to expand the range of conditions included in these programs. As par...