Linked Life Data

21258063

Source:http://linkedlifedata.com/resource/pubmed/id/21258063

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2011-3-10
pubmed:abstractText
SUMMARY: Accurate annotations of genomic variants are necessary to achieve full-genome clinical interpretations that are scientifically sound and medically relevant. Many disease associations, especially those reported before the completion of the HGP, are limited in applicability because of potential inconsistencies with our current standards for genomic coordinates, nomenclature and gene structure. In an effort to validate and link variants from the medical genetics literature to an unambiguous reference for each variant, we developed a software pipeline and reviewed 68 641 single amino acid mutations from Online Mendelian Inheritance in Man (OMIM), Human Gene Mutation Database (HGMD) and dbSNP. The frequency of unresolved mutation annotations varied widely among the databases, ranging from 4 to 23%. A taxonomy of primary causes for unresolved mutations was produced. AVAILABILITY: This program is freely available from the web site (http://safegene.hms.harvard.edu/aa2nt/).
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-10592250, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-12045153, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-1284474, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-14990452, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-16835427, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-18842627, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-19348700, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-19815759, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-20434765, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-20435227, http://linkedlifedata.com/resource/pubmed/commentcorrection/21258063-20629180
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1367-4811
pubmed:author
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
891-3
pubmed:dateRevised
2011-7-26
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations.
pubmed:affiliation
Harvard Medical School, Boston, MA 02115, USA. mt153@hms.harvard.edu
pubmed:publicationType
Journal Article, Research Support, N.I.H., Extramural, Validation Studies