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Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.
Academic Article
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Whole-Exome Sequencing of Salivary Gland Mucoepidermoid Carcinoma.
Academic Article
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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Academic Article
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Clinical exome sequencing: the new standard in genetic diagnosis.
Academic Article
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Exome sequencing and genetic testing for MODY.
Academic Article
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Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.
Academic Article
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Analyzing Somatic Genome Rearrangements in Human Cancers by Using Whole-Exome Sequencing.
Academic Article
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Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.
Academic Article
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Exome sequencing: one small step for malignant hyperthermia, one giant step for our specialty--why exome sequencing matters to all of us, not just the experts.
Academic Article
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Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Academic Article
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Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.
Academic Article
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Clinical application of whole-exome sequencing across clinical indications.
Academic Article
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Exome sequencing and the genetics of intellectual disability.
Academic Article
Why?
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
Academic Article
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Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance.
Academic Article
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