Logo do repositório
 
A carregar...
Miniatura
Publicação

Ultra-low coverage nanopore sequencing identifies thousands of structural variants in a tumor genome

Utilize este identificador para referenciar este registo.
Nome:Descrição:Tamanho:Formato: 
Resumo_10040_48ba0.pdf51.83 KBAdobe PDF Ver/Abrir

Orientador(es)

Resumo(s)

Objectives/Context: Nanopore sequencing is a recent technology which allows direct sequencing of DNA. It uses an ionic current to move DNA strands through nanopores embedded in an electrically-resistant membrane. The changes in nanopore signals are recorded by an ASIC chip placed below the membrane and translated into a specific base sequence. Nanopore sequencing provides a better alternative than short-read technologies to identify structural variants (SV) because of the ability to sequence entire DNA molecules. In this work we performed nanopore sequencing of a tumour genome to detect several types of SV.

Descrição

Palavras-chave

Nanopore Sequencing Tumour Genome Bioinformatics Tecnologias de Análise de DNA Sequencing of DNA Doenças Genéticas

Contexto Educativo

Citação

Projetos de investigação

Unidades organizacionais

Fascículo