Genomics at Deerwalk

Deerwalk's Genomics department provides a set of specialized services including the curation and analysis of sequence variants and the validation of clinico-genetic content of genomics software. Since 2006, our 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 in a variety of clinical settings. The team’s educational backgrounds in Life Sciences and Biotechnology, 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.


Who uses Deerwalk's Genomics Services?

Deerwalk supports any type of genetic diagnostic or research center engaged in DNA sequencing, analysis of genetic changes to determine impact on disease, or providing software solutions for genomics data. Clients include commercial DNA testing laboratories and organizations engaged in research, personalized gene therapy or pharmacology. Typical users are lab directors, clinicians, scientists, genetic counselors or anyone building a personal genetic database. Genomics clients take advantage of efficiencies with respect to both time and cost.

Services Overview

DNA Sequencing Services

DNA sequencing services involve analyzing sequence data of genes.

  • Software-based quality analysis of Sanger-based DNA sequencing results (software: SeqScape, Sequence Scanner)
  • Documentation of sequencing results of patients/subjects in Quality Analysis Reports and generation of genetic testing reports
  • Identifying and annotating the variants and associating them with clinical significance
  • Identifying and calculating insertion/deletion variants in the sequenced genes

Variant Science

Variant science work includes building online databases for variants, determining the clinical significance of variants, and the validation of clinical content of genomics software. Variants are annotated according to the Human Genome Variation Society (HGVS).
The curation of variants includes following process:

  • Extracting articles that describe variants from online sources such as Scholar Google, Google, Pub Med
  • Reading the articles and manually listing all genetic variants and related information
  • Deriving the standard nomenclature of genetic variants according to HGVS
  • Entering genetic variants with relevant information into the client database where it can be referenced for genetic changes interpretation
In addition, with our expertise and collaboration with computer engineers, we are perfectly placed to build variant databases.

Clinical Significance Determination

Determining clinically significant variants: this determination is based on in-house or client-specific standard operating procedures, and/or the 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 computational tools such as PolyPhen, MutationTaster, SNP GO, SIFT, splicing tools, etc
  • 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
In addition, with our expertise and collaboration with computer engineers, we are perfectly placed to build variant databases.

Validation of Clinico-genetic Contents of Genomics Software

Big data in genomics has caused a tremendous growth in the development of software solutions that relate genome data to clinical and research utilities. This process includes:

  • Setting up the standard methods and guidelines for checking various clinico-genetic parameters in the software
  • Performing the quality control checks of the parameters and validating whether or not the contents are standard
  • Fixing content issues