VAF-tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing [0.03%]
VAF-肿瘤内容图：解释遗传性癌症变异和在仅进行肿瘤测序时支持基因咨询的简单视觉框架
Mina Kashima,Hiroshi Tsubamoto,Tomoko Ueda et al.
Mina Kashima et al.
Comprehensive genomic profiling (CGP) using tumor-only sequencing detects pathogenic or likely pathogenic (P/LP) variants in hereditary cancer susceptibility genes (HCSGs). However, interpreting the biological origin and clinical significan...
A nationwide survey on attitudes of obstetricians and gynecologists toward comprehensive prenatal genetic testing in Japan [0.03%]
日本妇产科医生对全面孕前基因检测态度的全国性调查
Yuka Shibata,Takahiro Yamada,Nahoko Shirato et al.
Yuka Shibata et al.
Comprehensive prenatal genetic testing expands the range of conditions that can be diagnosed before birth. However, its appropriate use requires a high genetic literacy level. This study aimed to identify challenges associated with the clin...
Correction: A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient [0.03%]
纠正：基于三重的长读测序工作流程识别出一个以前未被诊断患者的致病转座元件插入点
Hiroyuki Mishima,Yoriko Watanabe,Uladzislau Korzun et al.
Hiroyuki Mishima et al.
Published Erratum
Journal of human genetics. 2026 Jul 21. DOI:10.1038/s10038-026-01495-6 2026
Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant [0.03%]
SSR4-CDG的临床和分子特征扩展：一例成人患者及一种框内变异体的致病性解读
Ayumi Yoshimura,Yoshiteru Azuma,Keisuke Hamada et al.
Ayumi Yoshimura et al.
Congenital disorders of glycosylation (CDG) comprise a diverse group of inherited metabolic diseases caused by defects in glycan biosynthesis. SSR4-CDG is an ultra-rare X-linked disorder caused by pathogenic variants in SSR4, which encodes ...
Novel variants in LINC and TTM complexes of meiotic chromosome dynamics are associated with meiotic arrest and non-obstructive azoospermia [0.03%]
联会复合体和顶端到顶端复合体的新变异与减数分裂停滞及非阻塞性无精子症相关
Qian Sun,Wenbo Li,Jiyu Meng et al.
Qian Sun et al.
Non-obstructive azoospermia (NOA) represents the most severe type of male infertility. The linker of nucleoskeleton and cytoskeleton (LINC) complex and the TERB1-TERB2-MAJIN (TTM) telomere-tethering complex are essential for meiotic chromos...
Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey [0.03%]
来自单中心调查的启示：迈向可持续的遗传性乳腺癌和卵巢癌监测体系
Yumiko Goto,Tomoko Seki,Daisuke Nakato et al.
Yumiko Goto et al.
Hereditary breast and ovarian cancer (HBOC) syndrome, caused by pathogenic variants in BRCA1 or BRCA2, is associated with increased risks of breast, ovarian, pancreatic, and prostate cancers. Although long-term, multi-organ surveillance is ...
Age-dependent association of the METTL23 c.84+60delAT variant with normal-tension glaucoma [0.03%]
年龄依赖性的METTL23c.84+60delAT变异与正常眼压性青光眼的关联研究
Yang Pan,Kazutoshi Yoshitake,Naoko Minematsu et al.
Yang Pan et al.
Normal-tension glaucoma (NTG) is an age-related cause of irreversible vision loss, yet the contribution of genetic variants to susceptibility across the lifespan remains unclear. The splice-site variant METTL23 c.84+60delAT (delAT), which i...
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations [0.03%]
脊髓小脑共济失调型36的单体型分析提示跨人群具有共享的允许核心单体型
Katsuki Eguchi,Satoko Miyatake,Asako Takei et al.
Katsuki Eguchi et al.
Spinocerebellar ataxia type 36 (SCA36)-caused by a GGCCTG hexanucleotide repeat expansion in the NOP56 gene-has traditionally been considered to originate from a founder effect in the Ashida River basin of southern Japan. However, its genet...
Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathy [0.03%]
外显子MYPN变异导致隐秘供体剪接位点激活并发先天性肌病
Guangyu Wang,Guiguan Yang,Yaru Wang et al.
Guangyu Wang et al.
Biallelic pathogenic variants in the MYPN gene are a known cause of congenital myopathy, and exonic variants that activate cryptic splice sites have not been previously reported. Here, we report a Chinese proband with congenital myopathy ca...
The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI [0.03%]
遗传学检测在生殖医学中的重要性整合：一项回顾性观察研究，调查体外受精-卵胞浆内单精子注射夫妇的人类不孕的单基因病因
Sara H El-Dessouky,Wessam E Sharaf-Eldin,Islam F Soliman et al.
Sara H El-Dessouky et al.
The genetic landscape of human infertility is complex with diverse etiologies. Identifying the underlying etiology is crucial for guiding reproductive decisions and improving management for infertile couples. Here, we aim to report on the m...