trfermikit: a tool to discover VNTR-associated deletions.
Bioinformatics
; 38(5): 1231-1234, 2022 02 07.
Article
en En
| MEDLINE
| ID: mdl-34864893
ABSTRACT
SUMMARY:
We present trfermikit, a software tool designed to detect deletions larger than 50 bp occurring in Variable Number Tandem Repeats using Illumina DNA sequencing reads. In such regions, it achieves a better tradeoff between sensitivity and false discovery than a state-of-the-art structural variation caller, Manta and complements it by recovering a significant number of deletions that Manta missed. trfermikit is based upon the fermikit pipeline, which performs read assembly, maps the assembly to the reference genome and calls variants from the alignment. AVAILABILITY AND IMPLEMENTATION https//github.com/petermchale/trfermikit. SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Programas Informáticos
/
Genoma
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Bioinformatics
Asunto de la revista:
INFORMATICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos