Year: 2018
Type: article
Abstract: In recent years long-read technologies have moved from being a niche and specialist field to a point of relative maturity likely to feature frequently in the genomic landscape. Analogous to next generation sequencing, the cost of sequencing using long-read technologies has materially dropped whilst the instrument throughput continues to increase. Together these changes present the prospect of sequencing large numbers of individuals with the aim of fully characterizing genomes at high resolution. In this article, we will endeavour to present an introduction to long-read technologies showing: what long reads are; how they are distinct from short reads; why long reads are useful and how they are being used. We will highlight the recent developments in this field, and the applications and potential of these technologies in medical research, and clinical diagnostics and therapeutics.
Source: Human Molecular Genetics
DOI: 10.1093/hmg/ddy177
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,390
Awards: Characterisation of the Effect of Newly Identified Associated Genetic Variantson Lymphocyte Differentiation and Response to Childhood Vaccination., Characterisation of the Effect of Newly Identified Associated Genetic Variantson Lymphocyte Differentiation and Response to Childhood Vaccination., G4818364738, G4839860845, Predictive analytics of integrated genomic and clinical data using machine learning and complex statistical approaches, Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papers
OpenAlex ID: W2807773783