Journal
GENOME BIOLOGY
Volume 12, Issue 9, Pages -Publisher
BMC
DOI: 10.1186/gb-2011-12-9-228
Keywords
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Funding
- Netherlands Organization for Health Research and Development (ZonMW) [917-66-363, 911-08-025]
- EU [Health-F5-2009-223143]
- AnEUploidy [LSHG-CT-2006-37627]
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Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease.
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