DECEMBER 2013
Doctors at Children’s Mercy Hospital in Kansas City were able to use rapid DNA sequencing and analysis to identify the genetic mutation keeping a baby girl from eating and growing. The team identified the cause of her problems, a genetic disorder that can be treated with intensive nutritional support and vitamins to stimulate her mitochondria, and ruled out other progressive and often fatal conditions.
Publications
- Locus Reference Genomic: Reference Sequences for the Reporting of Clinically-Relevant Sequence Variants
- Accurate Local-Ancestry Inference in Exome-Sequenced Admixed Individuals Via Off-Target Sequence Reads
- Quantitative Identification of Mutant Alleles Derived From Lung Cancer in Plasma Cell-Free DNA Via Anomaly Detection Using Deep Sequencing Data
- Discovery of Genes Related to Witches Broom Disease in Paulownia tomentosa × Paulownia fortunei by a De Novo Assembled Transcriptome
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