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Journal article

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

Abstract:

The development of next generation sequencing (NGS) has radically transformed the scientific landscape, making it possible to sequence the exome of any given individual in a cost-effective way. The power of this approach has been demonstrated by a number of groups who have identified pathogenic mutations in small pedigrees that have been resistant to traditional genetic mapping. Recently it has become clear that exome sequencing has great potential with respect to sporadic disease and the ide...

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Publication status:
Published

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Publisher copy:
10.1038/jhg.2011.128

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Journal:
Journal of human genetics
Volume:
57
Issue:
1
Pages:
70-72
Publication date:
2012-01-05
DOI:
EISSN:
1435-232X
ISSN:
1434-5161
URN:
uuid:b128be72-f38b-4c1b-8332-14b8de3fcc3f
Source identifiers:
216101
Local pid:
pubs:216101

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