New Amsterdam Genomics uses sophisticated technology that no other genomics company can match. This allows us to provide physicians the most comprehensive, clinically actionable health information specific to each person.
We specialize in whole exome sequencing, which provides much wider coverage than traditional gene panel services. The exome is the entire protein-coding region of the human genome and includes over 22,000 gene. While comprising just 1% of our total DNA, the exome encompasses the vast majority of disease-causing mutations. By selectively targeting the exome, we offer physicians the most effective and efficient genetic test for the clinical diagnosis, prognosis, and optimal treatment of each patient.
Next Generation Sequencing (NGS) has made it affordable for sick and healthy people alike to be sequenced. As part of NGS, DNA is spliced into small fragments (approximately 100 nucleotides each) and then sequenced in parallel using a fluorescence-based biochemical technique. The sequence output for each of these fragments is referred to as a read, and these raw reads go through a rigorous quality control process where adapters and sequences of low confidence are discarded.
We differentiate ourselves by our powerful computer algorithms to detect and interpret genomic variation.
First, we compare each 100 base-pair processed read to what is called the reference genome. This process is analogous to a puzzle, where the reference genome is like the picture on the front of the box and the 100 base-pair sequences are the puzzle pieces. Each section of the genome must be covered by about 100 different reads to provide clinical-quality confidence. After the mapping algorithms have reconstructed the person's genome from the fragments, the next step is analysis.
By comparing the patient's reads to the reference genome, we determine which variants the patient has. There are many different types of variants: single point mutations, small insertions and deletions, and structural variants like copy number variations and chromosomal rearrangements. We focus on those variants that we can confirm with the highest accuracy.
Our platform is open to computer programmers who wish to build apps that add value to peoples' DNA profiles. Note: for security and privacy, each user must specifically approve an app before their data can be accessed. If you would like to join our developer program, please contact us.
Contributing to the Community
N.A.G. is active in the open source community. An example is Pgenesniffer, a utility which finds genomic variants that may be misclassified from pseudogenic sequences.