APRIL 2013
Experts have identified two new variants of a gene, known to regulate glycogen availability for muscle development. This shows that the latest sequencing technology can be used successfully and cost-effectively in gene discovery and diagnosis of rare disease cases.
Publications
- RNA-Seq Analysis of Cocos nucifera: Transcriptome Sequencing and De Novo Assembly for Subsequent Functional Genomics Approaches
- Accurate Identification and Analysis of Human mRNA Isoforms Using Deep Long Read Sequencing
- Pedigree and Genotyping Quality Analyses of Over 10,000 DNA Samples From the Generation Scotland: Scottish Family Health Study
- Gene Rearrangements in Hormone Receptor Negative Breast Cancers Revealed by Mate Pair Sequencing
- Differential Genomic Variation Between Short and Long-Term Bacterial Evolution Revealed by Ultradeep Sequencing
News
- Aye-Ayes: Endangered Lemurs’ Complete Genomes are Sequenced and Analysed for Conservation Efforts
- Gene Sequencing Pinpoints Antibiotic Resistance Moving From Livestock to Humans
- Famous ‘HeLa’ Human Cell Line Gets its DNA Sequenced
- Exome Sequencing Identifies Titin Mutations Causing Hereditary Myopathy With Early Respiratory Failure (HMERF) in Families of Diverse Ethnic Origins
- Novel DNA Test Detects Food Ingredients
