Scientists have successfully sequenced the genome of a foetus after taking a blood sample from a pregnant woman and a swab of saliva from the father in a move that could play a significant role in the screening of rare disorders before the child is even born.

Publications
- Associations Between Single Nucleotide Polymorphisms in Iron-Related Genes and Iron Status in Multiethnic Populations
- Data-Driven Unbiased Curation of the TP53 Tumour Suppressor Gene Mutation Database and Validation by Ultradeep Sequencing of Human Tumours
- Whole-Exome Sequencing and High-Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
- A High-Throughput Next-Generation Sequencing-Based Method for Detecting the Mutational Fingerprint of Carcinogens

News