Functional effect predictions for ion channel missense variants using a protein language model [0.03%]
基于蛋白质语言模型的离子通道错义变异的功能效应预测
Seán Gies,Artoghrul Alishbayli,Paul H E Tiesinga et al.
Seán Gies et al.
Channelopathies represent a group of diseases often caused by missense variants in ion channels affecting the functioning of tissues like the nervous system, heart, and muscle. The gold standard for functionally characterizing a variant is ...
A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient [0.03%]
一种基于三重的长读测序工作流程识别出先前未被诊断患者的致病转座元件插入点
Hiroyuki Mishima,Yoriko Watanabe,Uradzislau Korzun et al.
Hiroyuki Mishima et al.
Long-read sequencing (LRS) is a powerful tool for detecting structural variants (SVs), which are major causes of genetic diseases. However, the application of trio-based analysis to LRS data remains challenging due to the complexity of merg...
Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches [0.03%]
短读深度测序在帕金森病中鉴定GBA1基因外显子缺失突变的策略及意义
Youn-Ji Hong,Mi-Ae Jang,Dongmin Yang et al.
Youn-Ji Hong et al.
Pathogenic variants in GBA1 are a significant genetic risk factor for Parkinson disease (PD). Owing to high sequence homology between GBA1 and its pseudogene GBAP1, short-read NGS (srNGS) is susceptible to read misalignment, particularly in...
Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study [0.03%]
单核苷酸多态性无创产前检测的新生儿细胞遗传学验证：一项包含4466例的单中心研究
Shiho Uchida,Yuki Mizuguchi,Suguru Sato et al.
Shiho Uchida et al.
Non-invasive prenatal testing (NIPT) is widely used for fetal aneuploidy screening; however, most evaluations of test accuracy rely on pregnancy outcomes rather than cytogenetic confirmation after birth, and evidence regarding the real-worl...
Implementation of comprehensive genome analysis in clinical sequencing at an academic institution [0.03%]
学术机构在临床测序中全面实施基因组分析的方法及影响因素分析
Naoko Saito-Sato,Masaki Tanaka,Junko Nomoto et al.
Naoko Saito-Sato et al.
Given the increasing number of diseases for which causative genes have been identified, we are facing the need for implementing comprehensive genome sequence analysis as a molecular diagnostic system for patients with hereditary diseases in...
Gastrointestinal involvement in Ehlers-Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant [0.03%]
与新型AEBP1剪接位点变异相关的经典型埃勒斯-当洛斯综合征2型的胃肠道受累
Hikaru Nakahara,Tomomi Yamaguchi,Hiroaki Niitsu et al.
Hikaru Nakahara et al.
Ehlers-Danlos syndrome classical-like type 2 (clEDS2) is a rare autosomal recessive connective tissue disorder caused by biallelic loss-of-function variants in the gene encoding adipocyte enhancer-binding protein 1 (AEBP1). While cutaneous ...
HOXB13, a high-risk prostate cancer gene, also confers risk for breast cancer: novel variants of clinical significance, especially in hormone-positive patients [0.03%]
HOXB13基因不仅是一个高风险的前列腺癌易感基因也是一个乳腺癌易感基因：激素受体阳性患者中具有临床意义的新突变位点
Filiz Ozen,Zeynep Yegin,Diyar Sayit
Filiz Ozen
Germline mutations in high-risk genes, such as BRCA1 and BRCA2, are primarily responsible for inherited breast cancers, while mutations in moderate-risk genes also increase susceptibility. HOXB13 is established as a high-risk gene for prost...
Transfer RNA-derived small RNAs: from biogenesis to regulatory roles in male reproductive system [0.03%]
由转移RNA衍生的小RNAs：从生物生成到在男性生殖系统中的调控作用
Xiaodan Jiang,Xinliang Gu,Yang Li et al.
Xiaodan Jiang et al.
With the advancement of next-generation sequencing technologies, transfer RNA (tRNA)-derived small RNAs (tsRNAs) have been progressively elucidated in their biogenesis and classification. tsRNAs are derived from precursor tRNAs (pre-tRNAs) ...
Further delineation of the phenotype and genotype in a newly identified PAN2-related disorder [0.03%]
PAN2相关新疾病的表型和基因型的进一步研究
Erdem Kındış,Elif Eviz,Serdar Ceylaner
Erdem Kındış
Regulation of mRNA decay is a critical mechanism for effective gene expression. Poly(A) tail length is directly associated with mRNA stability, and deadenylation, which shortens poly(A) tails, plays a central role in mRNA regulation. PAN2 e...
Nanopore third-generation sequencing for the diagnosis of rare hemoglobinopathies in Southern China [0.03%]
华南地区罕见血红蛋白病的纳米孔三代测序诊断技术
Fen Lin,Shi-Xiong Yang,Yi-Yuan Ge et al.
Fen Lin et al.
Thalassemia, a genetically inherited hemoglobinopathy, represents a significant global health challenge with profound socioeconomic implications, particularly in endemic regions. The emergence of third-generation sequencing (TGS) technologi...