The Shapiro-Senapathy Algorithm is Transforming Precision Medicine

The Shapiro-Senapathy algorithm (S&S) has been used in over 5,000 peer-reviewed research articles in journals such as Nature, Nature Genetics, Science, New England Journal of Medicine, Cell, Human Mutation, and Human Genetics.

The #1 algorithm in precision medicine

For many years, scientists had expected that the majority of disease-causing gene mutations would occur in the exons (coding regions) of genes. However, in recent years, it has been discovered that over 60% of disease-causing gene mutations occur in splice sites. These mutations affect the splicing process, which removes the non-coding introns from every gene.

The S&S algorithm is used in clinical and research institutions around the world to discover deleterious mutations in splice junctions, and predict their outcomes in disease-causing genes. Researchers use the algorithm to pinpoint the genetic effects of splice site mutations such as exon skipping and cryptic splice site activation. The algorithm has been used in over 5,000 research articles that determine the underlying causes of cancer and numerous other genetic disorders.


S&S has been used to discover disease-causing gene mutations in numerous diseases, including the following:


  • Breast Cancer
  • Ovarian Cancer
  • Colorectal Cancer
  • Leukemia
  • Head And Neck Cancers
  • Prostate Cancer
  • Retinoblastoma
  • Squamous Cell Carcinoma
  • Gastrointestinal Cancer
  • Melanoma, Liver Cancer
  • Lynch Syndrome
  • Skin Cancer
  • Neurofibromatosis
  • Gastric Cancer

Non Cancer

  • Diabetes
  • Obesity
  • Neurological Disorders
  • Marfan Syndrome
  • Hypertrophic Cardiomyopathy
  • Eye Disorders
  • Muscular dystrophy
  • Thyroid disorders
  • Neuro-degenerative diseases
  • Liver disorders
  • Bardet-Biedl Syndrome
  • Odontogenesis Diseases
  • Beta-Ketothiolase Deficiency
  • Inherited Retinal Diseases

Genome Explorer®: A comprehensive platform to discover disease genes using the S&S algorithm

Genome Explorer is a clinical genomics platform that incorporates the S&S algorithm and several new algorithms developed by Genome International. It is fully automated by the touch of a button, and easy to use by clinicians and clinical researchers to discover genes in any disease.

Genome Explorer enables the discovery of genes causing disease and drug response phenotypes in patients at the point of care. It also provides the ability to discover new genes and mutations that cause different diseases by the analysis of patient cohorts. Similarly, Genome Explorer allows researchers to find the drug response genes in clinical trials for personalized drug development.

Click here to learn about Genome Explorer.