Get your data out there
28 Jun 2012
The strong growth in sequencing capacity and application in a clinical setting is often heralded as an important step towards better diagnosis and better care. This is true only if we find a way to ensure that researchers and physicians around the world have easy access to data on gene variants generated by clinical laboratories, argues a group of researchers, including NBIC Faculty member Johan den Dunnen, in a commentary in The Clinical Biochemist Reviews. They offer a concise overview of why holders of gene variant information should submit their data to public database and what information is required.
Plazzer J-P, den Dunnen JT, Smith T, Macrae F and Cotton RG
Reporting of genetic variants by diagnostic laboratories and other centres
Clin. Biochem. Rev. 2012, Vol 33(1):21-24