Evaluating discordant somatic calls across mutation discovery approaches to minimize false negative drug-resistant findings [0.03%]
评估不同突变发现方法的不一致体细胞变异调用以减少有关耐药性的假阴性发现
Hsin-Fu Lin,Pei-Miao Chien,Chinyi Cheng et al.
Hsin-Fu Lin et al.
Evaluating robustness of somatic mutation detections is essential when utilizing whole exome sequencing (WES) for treatment decision-making. A comprehensive evaluation was conducted using tumor WES from the FDA-led Sequencing Quality Contro...
Predicting high confidence ctDNA somatic variants with ensemble machine learning models [0.03%]
基于集成机器学习模型的高置信度ctDNA体细胞变异预测
Rugare Maruzani,Liam Brierley,Andrea Jorgensen et al.
Rugare Maruzani et al.
Circulating tumour DNA (ctDNA) is a minimally invasive cancer biomarker that can be used to inform treatment of cancer patients. The utility of ctDNA as a cancer biomarker depends on the ability to accurately detect somatic variants associa...
Novel germline and somatic variants in familial and sporadic meningioma genes [0.03%]
家族性和散发性脑膜瘤的新型胚系和体细胞变异基因
Bouchra Ouled Amar Bencheikh,Allison A Dilliott,Julie Gauthier et al.
Bouchra Ouled Amar Bencheikh et al.
Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to NF2 pathogenic variants in, approximately 60% of cases. Using exome sequencing, we found heterozygous germline variants in ni...
Integration of Germline and Somatic Variation Improves Chronic Lymphocytic Leukemia Risk Stratification [0.03%]
整合生殖系和体细变异可改善慢性淋巴细胞白血病的风险分层
Aubrey K Hubbard,Derek W Brown,Jie Liu et al.
Aubrey K Hubbard et al.
Both acquired mutations and germline genetic variation are known risk factors for chronic lymphocytic leukemia (CLL). Joint characterization of germline, acquired, and clinical risk has the potential to improve CLL risk prediction. Here, we...
Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights [0.03%]
深度测序揭示MOGHE中SLC35A2体细胞变异：分子和临床见解
Huaxia Luo,Xiaoqin Ruan,Xianyu Liu et al.
Huaxia Luo et al.
Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders [0.03%]
神经发育障碍个体的临床和神经心理学表型分析
Alisa Mo,Christopher A Walsh
Alisa Mo
Background and objectives: Somatic variants in brain-related genes can cause neurodevelopmental disorders, but detailed characterizations of their clinical phenotypes, neurobehavioral profiles, and comparisons with indivi...
The interplay between germline and somatic variants in alpha-1 anti-trypsin deficiency liver disease [0.03%]
α-1抗胰蛋白酶缺乏症肝病的生殖系和体细胞变异相互作用
Sílvia Vilarinho
Sílvia Vilarinho
Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma [0.03%]
卵巢癌中CHEK2体细胞变异与肿瘤微环境中的calprotectin表达关联可预测一小队列的铂类耐药性
Izabela Ferreira Gontijo de Amorim,Carolina Pereira de Souza Melo,Ramon de Alencar Pereira et al.
Izabela Ferreira Gontijo de Amorim et al.
High-grade serous ovarian cancer (HGSOC) low overall survival rate is often attributed to platinum resistance. Recent studies suggest that the tumor associated-microenvironment (TME) is a determining factor in malignant tumor progression an...
De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data [0.03%]
高质量长读单细胞RNA测序数据中体细胞变异的从头检测
Arthur Dondi,Nico Borgsmüller,Pedro F Ferreira et al.
Arthur Dondi et al.
In cancer, genetic and transcriptomic variations generate clonal heterogeneity, leading to treatment resistance. Long-read single-cell RNA sequencing (LR scRNA-seq) has the potential to detect genetic and transcriptomic variations simultane...
3' untranslated region somatic variants connect alternative polyadenylation dysregulation in human cancers [0.03%]
3'非翻译区体细胞突变连接人类癌症的替代多聚腺苷酸化失调
Qiushi Xu,Xiaomeng Cheng,Qianru Li et al.
Qiushi Xu et al.
Somatic variants in the cancer genome influence gene expression through diverse mechanisms depending on their specific locations. However, a systematic evaluation of the effects of somatic variants located in 3' untranslated regions (3' UTR...
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