Article
Biochemistry & Molecular Biology
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta
Summary: Cerebral Cavernous Malformation (CCM) is a genetic cerebrovascular disease that can cause seizures, neurological deficits, and fatal intracerebral hemorrhage. It is associated with loss-of-function mutations in three genes and may have additional genetic modifiers. A study in Italy identified pathogenic variants in CCM genes in 29% of CCM cases, as well as variants in other genes related to oxidative stress and inflammation.
Review
Biochemistry & Molecular Biology
Payal Ganguly, Bradley Toghill, Shelly Pathak
Summary: This article discusses the importance and research progress of bone marrow aging, explores inflammaging, and the application of next-generation sequencing technology in research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Chemistry, Analytical
Angel Guillermo Bracamonte
Summary: This article discusses strategies based on developments from nanotechnology focused on the next generation of sequencing (NGS). Spectroscopic techniques, new optical setups, colorimetric methods, polymeric transducers, fluorescence detection methods, and enhanced plasmonic techniques such as metal-enhanced fluorescence (MEF) are discussed. The study shows that optical active nanoplatforms can generate enhanced signal detection and transduction, particularly in single double-stranded DNA interactions.
Article
Genetics & Heredity
Gang Liu, Shumiao Zhang, Xinsheng Zhao, Chao Li, Minghao Gong
Summary: Diet analysis is crucial in animal ecology, and the next generation sequencing (NGS) approach has been suggested as a promising tool to improve efficiency. However, challenges in generating NGS-based diet data and subsequent analyses have hindered its widespread application in the field. More developments and incorporation of additional perspectives are needed to encourage ecologists to gain novel insights in their work.
Article
Immunology
Chengxin Liu, Juhua Yang, Huiting Huang, Shaofeng Zhan, Xintian Xia
Summary: Infection of Nocardia gipuzkoensis is a relatively uncommon form of pulmonary nocardiosis, usually occurring in patients with immune deficiency. We report a case of a 23-year-old female with a 10-year history of cough and sputum production, diagnosed with bronchiectasis. The infection was identified using metagenomic next-generation sequencing and whole genome sequencing, and was controlled with appropriate medication.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Oncology
Youngjun Park, Dominik Heider, Anne-Christin Hauschild
Summary: In recent years, advancements in next-generation sequencing and artificial intelligence have led to the development of various algorithms and applications. Integrating systems biology and machine learning has been crucial in addressing challenges posed by big data. Machine learning algorithms and network-based models play a key role in analyzing NGS data effectively.
Review
Biology
Calin Cainap, Ovidiu Balacescu, Simona Sorana Cainap, Laura-Ancuta Pop
Summary: Lung cancer remains one of the most commonly diagnosed and deadly cancers in the world. Early diagnosis is crucial for improving the standard of care. Next generation sequencing has been proven as a helpful tool in early cancer detection, including lung cancer, due to its advantages of low cost, speed, efficacy, low sample usage, and diversity.
Review
Biochemistry & Molecular Biology
Domenico Tierno, Gabriele Grassi, Serena Scomersi, Marina Bortul, Daniele Generali, Fabrizio Zanconati, Bruna Scaggiante
Summary: The poor survival of triple-negative breast cancer (TNBC) is attributed to its aggressive behavior, large heterogeneity, and high risk of recurrence. Next-generation sequencing (NGS) has been used to investigate the molecular characteristics of TNBC, revealing recurrent pathogenic alterations in TP53, immunocheckpoint response genes, and PIK3CA and DNA repair pathways. NGS has also identified potential personalized treatments and novel biomarkers such as AURKA, MYC, and JARID2 mutations. Additionally, NGS studies have identified ethnicity-specific alterations in African and African American TNBC, including EZH2 overexpression, BRCA1 alterations, and a BRCA2-delaAAGA mutation. The development of long-read sequencing methods and their combination with optimized short-read techniques hold promise for improving the efficiency of NGS approaches in future clinical use.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Lisa E. Creary, Sridevi Gangavarapu, Stacy J. Caillier, Paola Cavalcante, Rita Frangiamore, Benedicte A. Lie, Mats Bengtsson, Hanne Flinstad Harbo, Susanna Brauner, Jill A. Hollenbach, Jorge R. Oksenberg, Pia Bernasconi, Angelina Hatlo Maniaol, Lennart Hammarstrom, Renato Mantegazza, Marcelo A. Fernandez-Vina
Summary: This study reveals the associations of specific HLA alleles and haplotypes with genetic susceptibility to myasthenia gravis in different populations. Different immunogenetic predisposition profiles for early-onset and late-onset MG were identified, indicating distinct genetic factors involved. The findings also suggest a potential role for non-coding HLA genetic variants in the pathogenesis of MG.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Chemistry, Physical
Bauer L. LeSavage, Riley A. Suhar, Nicolas Broguiere, Matthias P. Lutolf, Sarah C. Heilshorn
Summary: The translation discusses how organotypic models of patient-specific tumors are changing our understanding of cancer heterogeneity and personalized medicine. These models can preserve genetic, proteomic, morphological, and pharmacotypic features of the parent tumor in vitro, and offer genomic and environmental manipulation. However, current cancer organoid culture techniques are uncontrolled and irreproducible, hindering the acceleration of insights into patient care.
Article
Microbiology
Michael T. Pyne, Keith E. Simmon, Melanie A. Mallory, Weston C. Hymas, Jeffery Stevenson, Adam P. Barker, David R. Hillyard
Summary: HIV-1 antiretroviral therapy management requires sequencing of different portions of the HIV-1 pol gene. Traditional Sanger sequencing has limited ability to detect minor variants. Next generation sequencing enables detection of variants at frequencies as low as 1%, allowing for earlier detection of resistance. However, implementation of NGS in the clinical laboratory is hindered by complicated design and analysis.
JOURNAL OF CLINICAL MICROBIOLOGY
(2022)
Article
Environmental Sciences
Miguel Baltazar-Soares, Andre R. A. Lima, Goncalo Silva, Elie Gaget
Summary: The introduction of genomic resources in fisheries management has enhanced our understanding of stock dynamics by adding a temporal point of view. By integrating genomic information with temporal projections from Species Distribution Models (SDMs), we can inform about potential future range expansions, contractions, and suitable habitats for fish stocks based on their evolutionary potential. This framework combines the advantages of SDMs and genomic data to improve forecasting ability in fisheries management.
FRONTIERS IN MARINE SCIENCE
(2023)
Article
Biotechnology & Applied Microbiology
Songbai Zheng, Xiaodan Wang, Ying Fu, Beibei Li, Jianhua Xu, Haifang Wang, Zhen Huang, Hui Xu, Yurong Qiu, Yaozhou Shi, Kui Li
Summary: This study investigated genetic variations in Chinese NSCLC patients using next-generation sequencing, identifying common mutated genes and genes with copy number variation. GO and KEGG analyses revealed that these genes were mainly involved in tumor-related signaling pathways such as PI3K-Akt, FoxO, and Ras.
Review
Biochemistry & Molecular Biology
Sushmaa Chandralekha Selvakumar, K. Auxzilia Preethi, Kehinde Ross, Deusdedit Tusubira, Mohd Wajid Ali Khan, Panagal Mani, Tentu Nageswara Rao, Durairaj Sekar
Summary: Personalized or precision medicine combines genetic information with phenotypic and environmental characteristics to tailor healthcare to individuals, enabled by cancer genome sequencing. The advantages of NGS, such as limited sample requirements and the development of biomarkers, have accelerated personalized medicine.
Article
Oncology
Hongsen Li, Liu Gong, Huanqing Cheng, Huina Wang, Xiaochen Zhang, Chuangzhou Rao, Zhangfa Song, Da Wang, Haizhou Lou, Feng Lou, Shanbo Cao, Hongming Pan, Yong Fang
Summary: This study investigated the molecular characterization of colorectal cancer with situs inversus totalis (SCRC), a rare condition. The results showed significant differences in mutated genes and mutational profiles between SCRC and non-SCRC patients. These findings contribute to personalized therapy and improved clinical management of SCRC patients.
FRONTIERS IN ONCOLOGY
(2022)