The $1000 genome may still be years away, but with the arrival of next-generation sequencing (NGS) technologies that are much faster and cheaper than the traditional Sanger method, large-scale sequencing of hundreds or even thousands of human genomes is fast becoming reality.
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http://dx.doi.org/10.1016/j.cell.2008.02.028 | DOI Listing |
Asian Pac J Cancer Prev
January 2025
Department of Medical Oncology, RGCI&RC, Delhi, India.
Background: Human Lung Carcinoma (LC) is among the most diagnosed cancers across the world among those non-small cell lung cancer (NSCLC) comprises about 85%. Next Generation Sequencing based detection of mutations are now well established in molecular oncology. With the advent of modern diagnostic methods, it is now well known that there are several mutations and gene rearrangements which are associated with the development of LC.
View Article and Find Full Text PDFIntern Emerg Med
January 2025
Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.
Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.
View Article and Find Full Text PDFGenes Genomics
January 2025
Cytogenetics Laboratory, Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi, 221005, India.
Background: Cervical cancer is the fourth most common cancer worldwide in females. This occurs primarily due to the infection of high-risk Human Papilloma Virus (HPV), although in advanced stages it requires support from host cellular factors. BRN3A is one such host cellular factors, whose expression remains high in cervical cancers and upregulates tumorigenic HPV gene expression.
View Article and Find Full Text PDFAnn Hematol
January 2025
Department of Hematology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Traditional Chinese Medicine), Hangzhou, China.
Aplastic anemia (AA) is a life-threatening bone marrow failure syndrome. The advent of next-generation sequencing (NGS) has shed light on the link between somatic mutations (SM) and the efficacy of immunosuppressive therapy (IST) in AA patients. However, the relationship between SM and hematopoietic stem cell transplantation (HSCT) has not been extensively explored.
View Article and Find Full Text PDFRheumatology (Oxford)
January 2025
School of Management, Shanxi Medical University, Taiyuan, China.
Objectives: Rheumatoid arthritis (RA) is a chronic, destructive autoimmune disorder predominantly targeting the joints, with gut microbiota dysbiosis being intricately associated with its progression. The aim of the present study was to develop of effective early diagnostic methods for early RA based on gut microbiota.
Methods: A cohort comprising 262 RA patients and 475 healthy controls (HCs) was recruited.
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