FIGG: simulating populations of whole genome sequences for heterogeneous data analyses.
BMC Bioinformatics
; 15: 149, 2014 May 19.
Article
en En
| MEDLINE
| ID: mdl-24885193
ABSTRACT
BACKGROUND:
High-throughput sequencing has become one of the primary tools for investigation of the molecular basis of disease. The increasing use of sequencing in investigations that aim to understand both individuals and populations is challenging our ability to develop analysis tools that scale with the data. This issue is of particular concern in studies that exhibit a wide degree of heterogeneity or deviation from the standard reference genome. The advent of population scale sequencing studies requires analysis tools that are developed and tested against matching quantities of heterogeneous data.RESULTS:
We developed a large-scale whole genome simulation tool, FIGG, which generates large numbers of whole genomes with known sequence characteristics based on direct sampling of experimentally known or theorized variations. For normal variations we used publicly available data to determine the frequency of different mutation classes across the genome. FIGG then uses this information as a background to generate new sequences from a parent sequence with matching frequencies, but different actual mutations. The background can be normal variations, known disease variations, or a theoretical frequency distribution of variations.CONCLUSION:
In order to enable the creation of large numbers of genomes, FIGG generates simulated sequences from known genomic variation and iteratively mutates each genome separately. The result is multiple whole genome sequences with unique variations that can primarily be used to provide different reference genomes, model heterogeneous populations, and can offer a standard test environment for new analysis algorithms or bioinformatics tools.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Programas Informáticos
/
Genómica
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
BMC Bioinformatics
Asunto de la revista:
INFORMATICA MEDICA
Año:
2014
Tipo del documento:
Article