Mouse genetic and phenotypic resources for human genetics.

Mouse genetic and phenotypic resources for human genetics.
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小鼠遗传和表型资源用于人类遗传学。

DOI:
10.1002/humu.22077
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发表时间:
2012-05
期刊:
影响因子:
3.9
通讯作者:
Gkoutos, Georgios V.
Gkoutos, Georgios V.
中科院分区:
医学2区
文献类型:
--
作者:
Schofield, Paul N.;Hoehndorf, Robert;Gkoutos, Georgios V.

文献摘要

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The use of model organisms to provide information on gene function has proved to be a powerful approach to our understanding of both human disease and fundamental mammalian biology. Large-scale community projects using mice, based on forward and reverse genetics, and now the pan-genomic phenotyping efforts of the International Mouse Phenotyping Consortium (IMPC), are generating resources on an unprecedented scale which will be extremely valuable to human genetics and medicine. We discuss the nature and availability of data, mice and ES cells from these large-scale programmes, the use of these resources to help prioritise and validate candidate genes in human genetic association studies, and how they can improve our understanding of the underlying pathobiology of human disease.
DOI: 10.1093/nar/gkq1008
发表时间: 2011-01
影响因子: 14.9
作者:
Blake JA;Bult CJ;Kadin JA;Richardson JE;Eppig JT;Mouse Genome Database Group
通讯作者: Mouse Genome Database Group
DOI: 10.1093/nar/gkq1132
发表时间: 2011-01
影响因子: 14.9
作者:
Finger JH;Smith CM;Hayamizu TF;McCright IJ;Eppig JT;Kadin JA;Richardson JE;Ringwald M
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DOI: 10.1093/nar/gkn886
发表时间: 2009-01
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作者:
Blake JA;Bult CJ;Eppig JT;Kadin JA;Richardson JE;Mouse Genome Database Group
通讯作者: Mouse Genome Database Group
DOI: 10.1002/humu.21466
发表时间: 2011-05-01
期刊: HUMAN MUTATION
影响因子: 3.9
作者:
Amberger, Joanna;Bocchini, Carol;Hamosh, Ada
通讯作者: Hamosh, Ada
DOI: 10.1111/j.1365-2052.2006.01475.x
发表时间: 2006-08-01
期刊: ANIMAL GENETICS
影响因子: 2.4
作者:
Bult, C. J.
通讯作者: Bult, C. J.