Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population [0.03%]
在人体中鉴定中间大小的基因缺失并推断其对基因表达的影响
Jing Hao Wong,Daichi Shigemizu,Yukiko Yoshii et al.
Jing Hao Wong et al.
Background: Next-generation sequencing has allowed for the identification of different genetic variations, which are known to contribute to diseases. Of these, insertions and deletions are the second most abundant type of...
The good, the bad, and the ugly: hyperprogression in cancer patients following immune checkpoint therapy [0.03%]
免疫检查点治疗后的超级进展现象：好坏参半
Erich Sabio,Timothy A Chan
Erich Sabio
Immune checkpoint blockade therapy can elicit robust and durable responses in a variety of cancer types. While many patients do not respond, recent reports highlight a distinct group of patients whose tumors undergo rapid growth, leading to...
Evolving neoantigen profiles in colorectal cancers with DNA repair defects [0.03%]
具有DNA修复缺陷的结直肠癌中新生抗原谱的动态变化规律
Giuseppe Rospo,Annalisa Lorenzato,Nabil Amirouchene-Angelozzi et al.
Giuseppe Rospo et al.
Background: Neoantigens that arise as a consequence of tumor-specific mutations can be recognized by T lymphocytes leading to effective immune surveillance. In colorectal cancer (CRC) and other tumor types, a high number ...
Integrating informatics tools and portable sequencing technology for rapid detection of resistance to anti-tuberculous drugs [0.03%]
整合信息学工具和便携式测序技术以快速检测抗结核药物耐药性
Jody E Phelan,Denise M O&#x;Sullivan,Diana Machado et al.
Jody E Phelan et al.
Background: Mycobacterium tuberculosis resistance to anti-tuberculosis drugs is a major threat to global public health. Whole genome sequencing (WGS) is rapidly gaining traction as a diagnostic tool for clinical tuberculo...
Mechanisms of immune-related adverse events associated with immune checkpoint blockade: using germline genetics to develop a personalized approach [0.03%]
免疫检查点抑制剂相关免疫相关不良事件的发生机制：利用胚系遗传学进行个体化治疗研究
Zia Khan,Christian Hammer,Ellie Guardino et al.
Zia Khan et al.
Personalized care of cancer patients undergoing treatment with immune checkpoint inhibitors will require approaches that can predict their susceptibility to immune-related adverse events. Understanding the role of germline genetic factors i...
Radiation therapy and anti-tumor immunity: exposing immunogenic mutations to the immune system [0.03%]
放射治疗和抗肿瘤免疫：使免疫系统暴露于免疫原性突变中
Claire Lhuillier,Nils-Petter Rudqvist,Olivier Elemento et al.
Claire Lhuillier et al.
The expression of antigens that are recognized by self-reactive T cells is essential for immune-mediated tumor rejection by immune checkpoint blockade (ICB) therapy. Growing evidence suggests that mutation-associated neoantigens drive ICB r...
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies [0.03%]
外显子组测序在常规诊断中的应用-用于254名原发性免疫缺陷病患者的通用检测方法
Peer Arts,Annet Simons,Mofareh S AlZahrani et al.
Peer Arts et al.
Background: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of pa...
Sara R Selitsky,Lisle E Mose,Christof C Smith et al.
Sara R Selitsky et al.
Background: Measures of the adaptive immune response have prognostic and predictive associations in melanoma and other cancer types. Specifically, intratumoral T cell density and function have considerable prognostic and ...
Associating somatic mutations to clinical outcomes: a pan-cancer study of survival time [0.03%]
基于肿瘤突变对生存期预测的泛癌研究
Paul Little,Dan-Yu Lin,Wei Sun
Paul Little
We developed subclone multiplicity allocation and somatic heterogeneity (SMASH), a new statistical method for intra-tumor heterogeneity (ITH) inference. SMASH is tailored to the purpose of large-scale association studies with one tumor samp...
Inigo Martincorena
Inigo Martincorena
Recent sequencing studies on healthy skin and esophagus have found that, as we age, these tissues become colonized by mutant clones of cells carrying driver mutations in traditional cancer genes. This comment summarizes these findings and d...