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   <ui>gb-spotlight-20001006-03</ui>
   <ji>GBJ</ji>
   <fm>
      <dochead>Research news</dochead>
      <bibl>
         <title>
            <p>SNPing away</p>
         </title>
         <aug>
            <au id="A1">
               <snm>Wells</snm>
               <fnm>William</fnm>
               <email>wells@biotext.com</email>
            </au>
         </aug>
         <source>Genome Biology</source>
         <issn>1465-6906</issn>
         <pubdate>2000</pubdate>
         <volume>1</volume>
         <fpage>spotlight-20001006-03</fpage>
         <xrefbib>
            <pubid idtype="doi">10.1186/gb-spotlight-20001006-03</pubid>
         </xrefbib>
      </bibl>
      <history>
         <pub>
            <date>
               <day>06</day>
               <month>10</month>
               <year>2000</year>
            </date>
         </pub>
      </history>
      <cpyrt>
         <year>2000</year>
         <collab>BioMed Central Ltd</collab>
      </cpyrt>
      <shortabs>
         <p>Aided by new techniques, the SNP consortium is producing hundreds of thousands of SNPs to be used in disease-linkage studies.</p>
      </shortabs>
   </fm>
   <meta>
      <classifications>
         <classification type="STATUS">Archive</classification>
      </classifications>
   </meta>
   <bdy>
      <sec>
         <st>
            <p/>
         </st>
         <p>In the 28 September <abbr bid="B1"><it>Nature</it></abbr>, Altshuler <it>et al</it>. (<it>Nature</it> 2000, <b>407</b>:513-516) and Mullikin <it>et al</it>. (<it>Nature</it> 2000, <b>407</b>:516-520) report on the discovery of thousands of <abbr bid="B2">single nucleotide polymorphisms</abbr> (SNPs). These human sequence variants, in which two alternate bases occur at one position, are present at a frequency of up to one per kilobase. A dense map of SNPs would allow certain variants to be <abbr bid="B3">associated</abbr> with disease states. Previous efforts to uncover SNPs have struggled with the effort involved in amplifying specific regions of DNA, or completing several-fold coverage of an entire genome before any SNPs are forthcoming. Altshuler <it>et al</it>. present an alternative technique, in which digested DNA is size-fractionated before being subjected to shotgun sequencing. This method yields over 47,000 SNPs. Mullikin <it>et al</it>. extend the technique by focusing on chromosome 22, and by aligning their sequence data with the completed sequence of this chromosome. In total the SNP consortium of sequencing centers and pharmaceutical companies has now discovered over 350,000 SNPs, of which 250,000 have been mapped to the draft human genome sequence. The SNPs are freely available at the consortium <abbr bid="B4">website</abbr>.</p>
      </sec>
   </bdy>
   <bm>
      <refgrp>
         <bibl id="B1">
            <url>http://www.nature.com/nature/</url>
            <note>Nature</note>
         </bibl>
         <bibl id="B2">
            <note>Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.</note>
            <xrefbib>
               <pubid idtype="pmpid" link="fulltext">9582121</pubid>
            </xrefbib>
         </bibl>
         <bibl id="B3">
            <note>Prospects for whole-genome linkage disequilibrium mapping of common disease genes.</note>
            <xrefbib>
               <pubid idtype="pmpid" link="fulltext">10369254</pubid>
            </xrefbib>
         </bibl>
         <bibl id="B4">
            <url>http://snp.cshl.org</url>
            <note>The SNP Consortium Ltd.</note>
         </bibl>
      </refgrp>
   </bm>
</art>
