| pubmed-article:18842124 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18842124 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:18842124 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:18842124 | lifeskim:mentions | umls-concept:C1511790 | lld:lifeskim |
| pubmed-article:18842124 | lifeskim:mentions | umls-concept:C0205419 | lld:lifeskim |
| pubmed-article:18842124 | lifeskim:mentions | umls-concept:C0220825 | lld:lifeskim |
| pubmed-article:18842124 | lifeskim:mentions | umls-concept:C1509144 | lld:lifeskim |
| pubmed-article:18842124 | lifeskim:mentions | umls-concept:C2348042 | lld:lifeskim |
| pubmed-article:18842124 | lifeskim:mentions | umls-concept:C0337051 | lld:lifeskim |
| pubmed-article:18842124 | pubmed:dateCreated | 2008-10-20 | lld:pubmed |
| pubmed-article:18842124 | pubmed:abstractText | A new priority in genome research is large-scale resequencing of genes to understand the molecular basis of hereditary disease and cancer. We assessed the ability of massively parallel pyrosequencing to identify sequence variants in pools. From a large collection of human PCR samples we selected 343 PCR products belonging to 16 disease genes and including a large spectrum of sequence variations previously identified by Sanger sequencing. The sequence variants included SNPs and small deletions and insertions (up to 44 bp), in homozygous or heterozygous state. | lld:pubmed |
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| pubmed-article:18842124 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18842124 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18842124 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18842124 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18842124 | pubmed:issn | 1471-2164 | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:AlbertiniAlbe... | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:BordoniRobert... | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:BernardiLuigi... | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:De... | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:CarreraPaolaP | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:CremonesiLaur... | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:FerrariMauriz... | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:StenirriStefa... | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:RizziErmannoE | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:BenedettiSara... | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:ColomboAlessi... | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:BonnalRaoulR | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:BonalumiSaraS | lld:pubmed |
| pubmed-article:18842124 | pubmed:author | pubmed-author:MontrasioCris... | lld:pubmed |
| pubmed-article:18842124 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18842124 | pubmed:volume | 9 | lld:pubmed |
| pubmed-article:18842124 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18842124 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18842124 | pubmed:pagination | 464 | lld:pubmed |
| pubmed-article:18842124 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:18842124 | pubmed:meshHeading | pubmed-meshheading:18842124... | lld:pubmed |
| pubmed-article:18842124 | pubmed:meshHeading | pubmed-meshheading:18842124... | lld:pubmed |
| pubmed-article:18842124 | pubmed:meshHeading | pubmed-meshheading:18842124... | lld:pubmed |
| pubmed-article:18842124 | pubmed:meshHeading | pubmed-meshheading:18842124... | lld:pubmed |
| pubmed-article:18842124 | pubmed:meshHeading | pubmed-meshheading:18842124... | lld:pubmed |
| pubmed-article:18842124 | pubmed:meshHeading | pubmed-meshheading:18842124... | lld:pubmed |
| pubmed-article:18842124 | pubmed:meshHeading | pubmed-meshheading:18842124... | lld:pubmed |
| pubmed-article:18842124 | pubmed:meshHeading | pubmed-meshheading:18842124... | lld:pubmed |
| pubmed-article:18842124 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18842124 | pubmed:articleTitle | Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer. | lld:pubmed |
| pubmed-article:18842124 | pubmed:affiliation | Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche, Via F, Cervi 93, I-20090 Segrate, Italy. bordoni@itb.cnr.it | lld:pubmed |
| pubmed-article:18842124 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18842124 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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