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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2008-10-20
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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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-10408532,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-12651960,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-14555306,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-14684700,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-14709638,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-15192030,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-16056220,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-16081699,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-16351644,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-16395671,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-16799556,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-16959974,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-1710598,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-17299583,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-17517255,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-17517648,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-17932254,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-17934467,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-17934468,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-17982454,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-2231712,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-8849452,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18842124-9705713
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2164
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pubmed:author |
pubmed-author:AlbertiniAlbertoA,
pubmed-author:BenedettiSaraS,
pubmed-author:BernardiLuigi RossiLR,
pubmed-author:BonalumiSaraS,
pubmed-author:BonnalRaoulR,
pubmed-author:BordoniRobertaR,
pubmed-author:CarreraPaolaP,
pubmed-author:ColomboAlessioA,
pubmed-author:CremonesiLauraL,
pubmed-author:De BellisGianlucaG,
pubmed-author:FerrariMaurizioM,
pubmed-author:MontrasioCristinaC,
pubmed-author:RizziErmannoE,
pubmed-author:StenirriStefaniaS
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pubmed:issnType |
Electronic
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
464
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:18842124-Genetic Diseases, Inborn,
pubmed-meshheading:18842124-Genetic Variation,
pubmed-meshheading:18842124-Genomics,
pubmed-meshheading:18842124-Humans,
pubmed-meshheading:18842124-Mutation,
pubmed-meshheading:18842124-Neoplasms,
pubmed-meshheading:18842124-Polymorphism, Single Nucleotide,
pubmed-meshheading:18842124-Sequence Analysis, DNA
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pubmed:year |
2008
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pubmed:articleTitle |
Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.
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pubmed:affiliation |
Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche, Via F, Cervi 93, I-20090 Segrate, Italy. bordoni@itb.cnr.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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