<HashMap><database>biostudies-literature</database><scores><citationCount>0</citationCount><reanalysisCount>0</reanalysisCount><viewCount>53</viewCount><searchCount>0</searchCount></scores><additional><submitter>Xu Y</submitter><funding>NCI NIH HHS</funding><pagination>42-45</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC4697941</full_dataset_link><repository>biostudies-literature</repository><omics_type>Unknown</omics_type><volume>2012</volume><pubmed_abstract>A single-nucleotide polymorphism (SNP) is a single base change in the DNA sequence and is the most common polymorphism. Since some SNPs have a major influence on disease susceptibility, detecting SNPs plays an important role in biomedical research. To take fully advantage of the next-generation sequencing (NGS) technology and detect SNP more effectively, we propose a Bayesian approach that computes a posterior probability of hidden nucleotide variations at each covered genomic position. The position with higher posterior probability of hidden nucleotide variation has a higher chance to be a SNP. We apply the proposed method to detect SNPs in two cell lines: the prostate cancer cell line PC3 and the embryonic stem cell line H1. A comparison between our results with dbSNP database shows a high ratio of overlap (>95%). The positions that are called only under our model but not in dbSNP may serve as candidates for new SNPs.</pubmed_abstract><journal>IEEE International Workshop on Genomic Signal Processing and Statistics : [proceedings]. IEEE International Workshop on Genomic Signal Processing and Statistics</journal><pubmed_title>A Bayesian Model for SNP Discovery Based on Next-Generation Sequencing Data.</pubmed_title><pmcid>PMC4697941</pmcid><funding_grant_id>K25 CA123344</funding_grant_id><funding_grant_id>R01 CA132897</funding_grant_id><pubmed_authors>Liang S</pubmed_authors><pubmed_authors>Zheng X</pubmed_authors><pubmed_authors>Estecio MR</pubmed_authors><pubmed_authors>Issa JP</pubmed_authors><pubmed_authors>Ji Y</pubmed_authors><pubmed_authors>Xu Y</pubmed_authors><pubmed_authors>Yuan Y</pubmed_authors><view_count>53</view_count></additional><is_claimable>false</is_claimable><name>A Bayesian Model for SNP Discovery Based on Next-Generation Sequencing Data.</name><description>A single-nucleotide polymorphism (SNP) is a single base change in the DNA sequence and is the most common polymorphism. Since some SNPs have a major influence on disease susceptibility, detecting SNPs plays an important role in biomedical research. To take fully advantage of the next-generation sequencing (NGS) technology and detect SNP more effectively, we propose a Bayesian approach that computes a posterior probability of hidden nucleotide variations at each covered genomic position. The position with higher posterior probability of hidden nucleotide variation has a higher chance to be a SNP. We apply the proposed method to detect SNPs in two cell lines: the prostate cancer cell line PC3 and the embryonic stem cell line H1. A comparison between our results with dbSNP database shows a high ratio of overlap (>95%). The positions that are called only under our model but not in dbSNP may serve as candidates for new SNPs.</description><dates><release>2012-01-01T00:00:00Z</release><publication>2012 Dec</publication><modification>2024-10-18T08:46:54.938Z</modification><creation>2019-03-27T02:06:06Z</creation></dates><accession>S-EPMC4697941</accession><cross_references><pubmed>26726304</pubmed><doi>10.1109/gensips.2012.6507722</doi><doi>10.1109/GENSIPS.2012.6507722</doi></cross_references></HashMap>