A 25-year odyssey of genomic technology advances and structural variant discovery.
Cell
; 187(5): 1024-1037, 2024 Feb 29.
Article
em En
| MEDLINE
| ID: mdl-38290514
ABSTRACT
This perspective focuses on advances in genome technology over the last 25 years and their impact on germline variant discovery within the field of human genetics. The field has witnessed tremendous technological advances from microarrays to short-read sequencing and now long-read sequencing. Each technology has provided genome-wide access to different classes of human genetic variation. We are now on the verge of comprehensive variant detection of all forms of variation for the first time with a single assay. We predict that this transition will further transform our understanding of human health and biology and, more importantly, provide novel insights into the dynamic mutational processes shaping our genomes.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genômica
/
Variação Estrutural do Genoma
Limite:
Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article