Literature DB >> 29658778

ShRangeSim: Simulation of Single Nucleotide Polymorphism Clusters in Next-Generation Sequencing Data.

Markus Boenn1,2,3.   

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.

Entities:  

Keywords:  SNP cluster; next-generation sequencing; overdispersion; simulation

Mesh:

Year:  2018        PMID: 29658778     DOI: 10.1089/cmb.2018.0007

Source DB:  PubMed          Journal:  J Comput Biol        ISSN: 1066-5277            Impact factor:   1.479


  2 in total

Review 1.  A broad survey of DNA sequence data simulation tools.

Authors:  Shatha Alosaimi; Armand Bandiang; Noelle van Biljon; Denis Awany; Prisca K Thami; Milaine S S Tchamga; Anmol Kiran; Olfa Messaoud; Radia Ismaeel Mohammed Hassan; Jacquiline Mugo; Azza Ahmed; Christian D Bope; Imane Allali; Gaston K Mazandu; Nicola J Mulder; Emile R Chimusa
Journal:  Brief Funct Genomics       Date:  2020-01-22       Impact factor: 4.241

2.  GeDi: applying suffix arrays to increase the repertoire of detectable SNVs in tumour genomes.

Authors:  Izaak Coleman; Giacomo Corleone; James Arram; Ho-Cheung Ng; Luca Magnani; Wayne Luk
Journal:  BMC Bioinformatics       Date:  2020-02-05       Impact factor: 3.169

  2 in total

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