Exome and genome analysis as a tool for disease identification and treatment: The 2011 human genome variation society scientific meeting
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22018/fullpdf
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3. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome;Ng;Nat Genet,2010
4. Accurate and exact CNV identification from targeted high-throughput sequence data;Nord;BMC Genomics,2011
5. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency;Rope;Am J Human Genet,2011
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3. The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease;International Journal of Cardiology;2017-03
4. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge;Genome Biology;2014
5. Genomic Medicine, Health Information Technology, and Patient Care;JAMA;2013-04-10
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