LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads.
Genome Biol
; 25(1): 176, 2024 Jul 04.
Article
en 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 .
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Variación Genética
/
Genoma Humano
/
Secuencias Repetidas en Tándem
Límite:
Humans
Idioma:
En
Revista:
Genome Biol
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos