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xGen Human mtDNA Research Panel
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The Power of Whole Exome Sequencing to Unravel the Cause of Rare Disease
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- 1 The power of whole exome sequencing to unravel the cause of rare disease
- 2 Implementation of WES
- 3 xGen Human mtDNA Research Panel
- 4 DEGS1 mutation cause a new mutisystemic neurological disorder
- 5 Using spike-in probes for detection of known splice mutations
- 6 Germline GPR161 alterations cause medulloblastoma predisposition
- 7 CNV and LOH detection with WES data
- 8 Biallelic LoF mutations in WDR11 are associated with ID and short stature
- 9 A hereditary myopathy caused by mutations in SVIL
