Deerwalk Genomics team has been working on human genome variation science and primarily works on extraction (i.e. curation) of gene variations (mutations) and their overall information from biomedical literature, interpretation of mutations' significance, and integration of them into the database. This work is required for various clinical and research purposes. On clinical grounds, the information is used to make decisions about diagnosis, treatment, and prevention of patients suffering from various genetic diseases such as diabetes, heart diseases, cancers, Alzheimer’s disease, etc.
Nowadays, establishment of mutation databases is becoming quite popular. These databases have an immense utility, serving as a user-friendly information storehouse of mutations for information seekers such as doctors and researchers. We curate information about mutations manually which is regarded as the gold-standard process.
The other primary work of the team pertains to software-based data analysis solutions of data from Sanger DNA sequencing. This relates to all tasks of genetic testing after automated DNA sequencing in lab is finished − from data analysis to reporting. The workflow includes quality assessment of DNA sequencing files, gene-wise documentation of sequencing results, validation of the correct nomenclature of identified mutations, and generation of gene-wise reports.
Academic and professional works are highly integrated in terms of knowledge; what we learn in academic life is applied in our professional careers and vice versa. While working on mutations, we encounter a deluge of problems which arise mainly because we lack a consensus in naming and expressing what is what and because science is advancing very fast and we are somehow leaving behind what we found in the past.
With over a decade of total experiences on human genome variation science, which is growing at a swift pace in integrated science, we realized that writing an analytic review paper about conflicts in this field would not only expose us and our expertise to the scientific world but also be a contribution to the science itself. Hence, with our significant work experiences and for what is urged in the scientific community, we have published an analytically reviewed paper in a highly-rated publisher ‘Elsevier’ through the journal ‘Genomics, Proteomics and Bioinformatics’. The article, which discusses about curation processes, nature and types of difficulties in curation, and ways to tackle the difficulties, is available at: