LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads.
Genome Biol
; 25(1): 176, 2024 Jul 04.
Article
em En
| MEDLINE
| ID: mdl-38965568
ABSTRACT
Tandem repeats are frequent across the human genome, and variation in repeat length has been linked to a variety of traits. Recent improvements in long read sequencing technologies have the potential to greatly improve tandem repeat analysis, especially for long or complex repeats. Here, we introduce LongTR, which accurately genotypes tandem repeats from high-fidelity long reads available from both PacBio and Oxford Nanopore Technologies. LongTR is freely available at https//github.com/gymrek-lab/longtr and https//zenodo.org/doi/10.5281/zenodo.11403979 .
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Genoma Humano
/
Sequências de Repetição em Tandem
Limite:
Humans
Idioma:
En
Revista:
Genome Biol
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos