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		<identifier>oai:zbc.uz.zgora.pl:59050</identifier>
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<dc:title xml:lang="pl"><![CDATA[Sampling properties of estimators of nucleotide diversity at discovered SNP sites]]></dc:title>
<dc:creator><![CDATA[Renwick, Alexander]]></dc:creator>
<dc:creator><![CDATA[Bonnen, Penelope E.]]></dc:creator>
<dc:creator><![CDATA[Trikka, Dimitra]]></dc:creator>
<dc:creator><![CDATA[Nelson, David L.]]></dc:creator>
<dc:creator><![CDATA[Chakraborty, Ranajit]]></dc:creator>
<dc:creator><![CDATA[Kimmel, Marek]]></dc:creator>
<dc:subject xml:lang="pl"><![CDATA[single nucleotide polymorphisms]]></dc:subject>
<dc:subject xml:lang="pl"><![CDATA[ascertainment bias]]></dc:subject>
<dc:subject xml:lang="pl"><![CDATA[nucleotide diversity]]></dc:subject>
<dc:subject xml:lang="pl"><![CDATA[molecular evolution]]></dc:subject>
<dc:description xml:lang="pl"><![CDATA[SNP sites are generally discovered by sequencing regions of the human genome in a limited number of individuals. This may leave SNP sites present in the region, but containing rare mutant nucleotides, undetected. Consequently, estimates of nucleotide diversity obtained from assays of detected SNP sites are biased.]]></dc:description>
<dc:description xml:lang="pl"><![CDATA[In this research we present a statistical model of the SNP discovery process, which is used to evaluate the extent of this bias. This model involves the symmetric Beta distribution of variant frequencies at SNP sites, with an additional probability that there is no SNP at any given site.]]></dc:description>
<dc:description xml:lang="pl"><![CDATA[Under this model of allele frequency distributions at SNP sites, we show that nucleotide diversity is always underestimated. However, the extent of bias does not seem to exceed 10-15% for the analyzed data.]]></dc:description>
<dc:description xml:lang="pl"><![CDATA[We find that our model of allele frequency distributions at SNP sites is consistent with SNP statistics derived based on new SNP data at ATM, BLM, RQL and WRN gene regions. The application of the theory to these new SNP data as well as to the literature data at the LPL gene region indicates that in spite of ascertainment biases, the observed differences of nucleotide diversity across these gene regions are real.]]></dc:description>
<dc:description xml:lang="pl"><![CDATA[This provides interesting evidence concerning the heterogeneity of the rates of nucleotide substitution across the genome.]]></dc:description>
<dc:publisher><![CDATA[Zielona Góra: Uniwersytet Zielonogórski]]></dc:publisher>
<dc:contributor><![CDATA[Kimmel, Marek - red.]]></dc:contributor>
<dc:contributor><![CDATA[Lachowicz, Mirosław - red.]]></dc:contributor>
<dc:contributor><![CDATA[Świerniak, Andrzej - red.]]></dc:contributor>
<dc:date><![CDATA[2003]]></dc:date>
<dc:type xml:lang="pl"><![CDATA[artykuł]]></dc:type>
<dc:identifier><![CDATA[http://www.zbc.uz.zgora.pl/repozytorium/Content/59050/AMCS_2003_13_3_11.pdf]]></dc:identifier>
<dc:identifier><![CDATA[https://zbc.uz.zgora.pl/repozytorium/dlibra/publication/65912/edition/59050/content]]></dc:identifier>
<dc:identifier><![CDATA[oai:zbc.uz.zgora.pl:59050]]></dc:identifier>
<dc:source xml:lang="pl"><![CDATA[AMCS, volume 13, number 3 (2003)]]></dc:source>
<dc:source xml:lang="pl"><![CDATA[https://www.amcs.uz.zgora.pl/?action=paper&paper=156]]></dc:source>
<dc:language><![CDATA[eng]]></dc:language>
<dc:relation><![CDATA[oai:zbc.uz.zgora.pl:publication:65912]]></dc:relation>
<dc:rights xml:lang="pl"><![CDATA[Biblioteka Uniwersytetu Zielonogórskiego]]></dc:rights>
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