- Determining clinical significance variants – Determination is based on in-house or client-specific standard operating procedures, or procedures outlined by the American College of Medical Genetics and Genomics (ACMG). This process includes:
- Procuring all available information related to a genetic variant to be interpreted, including information from biomedical articles, NCBI dbSNP and other online databases
- Reading biomedical papers pertaining to the variant of concern and extracting relevant information such as frequency of variants in diseased and healthy individuals, genotype and phenotype information, functional/biochemical tests of the variant
- Curating variant frequency results from online databases such as dbSNP, 1000 Genomes Project and NHLBI ESP
- Performing predictions of variants by in silico tools such as Polyphen, Blossom, Alamut, MutationTaster, SNP &GO and SIFT
- Performing critical analysis of all evidence gathered
- Feeding all information through valid/standard algorithms to yield a range of scores that represents genotype-phenotype associate of genetic variants
Monday, March 30, 2015
What is Genomics in DeerwalkInc details here:
Since 2006 the Deerwalk Genomics team, comprised of experts in human genetics, genomics and bioinformatics, has delivered high-quality analysis and research reports to support a variety of clients and clinical settings. The team’s educational backgrounds in medical microbiology and biotechnology, along with high levels of proficiency in sequencing technologies and strict adherence to privacy standards, underscore Deerwalk’s commitment to quality. Other key advantages for clients include rapid turn-around time and cost efficiencies.
For any genetic testing operation these analytics provide the backbone for reporting and research.
Posted by Lava Kafle at 3:45 PM