Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms.
Bioinformatics
; 29(16): 2041-3, 2013 Aug 15.
Article
en En
| MEDLINE
| ID: mdl-23736529
ABSTRACT
SUMMARY:
An ultrafast DNA sequence aligner (Isaac Genome Alignment Software) that takes advantage of high-memory hardware (>48 GB) and variant caller (Isaac Variant Caller) have been developed. We demonstrate that our combined pipeline (Isaac) is four to five times faster than BWA + GATK on equivalent hardware, with comparable accuracy as measured by trio conflict rates and sensitivity. We further show that Isaac is effective in the detection of disease-causing variants and can easily/economically be run on commodity hardware.AVAILABILITY:
Isaac has an open source license and can be obtained at https//github.com/sequencing.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Programas Informáticos
/
Alineación de Secuencia
/
Análisis de Secuencia de ADN
/
Secuenciación de Nucleótidos de Alto Rendimiento
Límite:
Humans
Idioma:
En
Revista:
Bioinformatics
Asunto de la revista:
INFORMATICA MEDICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Reino Unido