JULY 2013
Through the partial genome sequencing of his entire family, Hugh Rienhoff and a group of collaborators have found a mutation in the gene that encodes the transforming growth factor-β3 (TGF-β3). The mutation, which has not been connected to any disease before, seems to be responsible for his daughter’s clinical features.
Publications
- Exome Sequencing Resolves Apparent Incidental Findings and Reveals Further Complexity of SH3TC2 Variant Alleles Causing Charcot-Marie-Tooth Neuropathy
- Pyrosequencing Analysis of the Human Microbiota of Healthy Chinese Undergraduates
- The Relative Timing of Mutations in a Breast Cancer Genome
- Impact of HDL Genetic Risk Scores on Coronary Artery Calcified Plaque and Mortality in Individuals With Type 2 Diabetes From the Diabetes Heart Study
- The Genome of Anopheles darlingi, the Main Neotropical Malaria Vector
News
- Next-Gen Sequencing Leads to New Virus Detection
- Prehistoric Horse Genome Decoded, Pushing Back Origins of Equine Lineage by 2 Million Years
- Genome Instability Studies Could Change Treatment for Cancer and Other Diseases
- Building the Internet of Genes
- Genes Known to Cause Birth Defects May Also Lead to Mental Illness
