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.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2008.02.028DOI Listing

Publication Analysis

Top Keywords

next-generation sequencing
8
sequencing race
4
race $1000
4
$1000 genome
4
genome years
4
years arrival
4
arrival next-generation
4
sequencing ngs
4
ngs technologies
4
technologies faster
4

Similar Publications

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 PDF

Genomic profiling at a single center cracks the code in inborn errors of immunity.

Intern 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 PDF

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 PDF

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 PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!