Publication Details |
Category | Text Publication |
Reference Category | Journals |
DOI | 10.1089/cmb.2018.0007 |
Title (Primary) | ShRangeSim: Simulation of single nucleotide polymorphism clusters in next-generation sequencing data |
Author | Boenn, M. |
Source Titel | Journal of Computational Biology |
Year | 2018 |
Department | BOOEK; iDiv |
Volume | 25 |
Issue | 6 |
Page From | 613 |
Page To | 622 |
Language | englisch |
Keywords | next-generation sequencing; overdispersion; simulation; SNP cluster |
Abstract | Genomic variations are in the focus of research to uncover mechanisms of host–pathogen interactions and diseases such as cancer. Nowadays, next-generation sequencing (NGS) data are analyzed through dedicated pipelines to detect them. Surrogate NGS data in conjunction with genomic variations help to evaluate pipelines and validate their outcomes, fostering selection of proper tools for a given scientific question. I describe how existing approaches for simulating NGS data in conjunction with genomic variations fail to model local enrichments of single nucleotide polymorphisms (SNPs), so called SNP clusters. Two distributions for count data are applied to publicly available collections of genomic variations. The results suggest modeling of SNP cluster sizes by overdispersion-aware distributions. |
Persistent UFZ Identifier | https://www.ufz.de/index.php?en=20939&ufzPublicationIdentifier=20247 |
Boenn, M. (2018): ShRangeSim: Simulation of single nucleotide polymorphism clusters in next-generation sequencing data J. Comput. Biol. 25 (6), 613 - 622 10.1089/cmb.2018.0007 |