Genomics is the study of genes and chromosomes. Genomic studies have a wide range of purposes, for example, determining the structure of encoded proteins, comparing genomic features in different species, or studying mutations that may occur in a person’s DNA.
Genomes evolve over time, changing in sequence or size. Additionally, more and more genomes are continually being sequenced and made available to the scientific community and the public at large.
BISC consultants work with the genome version of choice and mostly handle expedited requests for variant calling, investigating structural or copy number variation, and joint variant calling. We are also keen to dig deeper, integrating and expanding this domain with multiple datasets and ever more powerful analysis methods.