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In that case, genome-wide sequencing of patients is at least several years off.
Combined with exome-based sequencing of patients, we predict that 30% of sporadic cases of disease may be explained.
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
Complete mitochondrial genome sequencing of patients with childhood encephalopathies allowed us to detect mtDNA variants that can be associated with the disease.
Next generaration whole exome sequencing of patients with Ewing's sarcoma responding to IGF1R based treatment and reverse phase protein array analysis in patients acquiring resistance is underway and will help to decipher unidentified mechanisms and perhaps unravel novel mutations and genetic aberrations in the response and resistance pathways.
Put another way, full diploid genome sequencing of patients ignores over 80% of disease risk.
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Here, we use exome sequencing of patient tumors and find multiple conserved genetic alterations.
SD: One of the greatest challenges facing molecular diagnostics now is how best to use the deluge of data that can now be generated by whole genome and exome sequencing of patient samples.
A large academic healthcare center (AHC) seeks to pilot the targeted sequencing of patient genomes in order to inform pharmacogenomic decision support at the point of care.
Sequencing of patient samples revealed that 5 out of 13 (38.5%) patients carried a BRAF V600) mutation.
Additionally, we performed RNA sequencing of patient DCIS/IDC tandem lesion pairs.
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