April 2014
A recently-published paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.
Publications
- Whole Genome Sequencing of Mycobacterium tuberculosis Reveals Slow Growth and Low Mutation Rates During Latent Infections in Humans
- Candidate Genes and Functional Noncoding Variants Identified in a Canine Model of Obsessive-Compulsive Disorder
- Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients With Usher Syndrome Type 1
- Mechanisms of Base Substitution Mutagenesis in Cancer Genomes
News
- Experts Map Germs’ DNA to Fight Food Poisoning
- Quick, Simple Blood Test for Solid Cancers Looks Feasible
- Genomics / Bone Marrow Donation: Next-Gen DNA Sequencing Enables Reliable Donor Matching Service
- Scientists Successful in Sequencing Largest Genome Ever, Loblolly Pine
- New Maps for Navigating Human Genome Unveiled
