MedySapiens

NGS analysis solution for rare disease

NGS analysis was the domain of bioinformatics experts. Medysapiens created a web-based solution to make this analysis easy for anyone. Medysapiens solution analyzes the NGS experimental data and provides relevant information on the derived mutations. Based on this information, clinicians can help find variants that cause disease. All of these processes are automated, so you can see results for multiple samples through a single upload process.

Our solution provides various clinical and annotation databases related to diseases for the diagnosis of rare genetic diseases. It also provides clinicians with criteria for variants through the ACMG guidelines and Medysapiens variant evaluation algorithms.

NGS analysis was the domain of bioinformatics experts. Medysapiens made a web-based solution to make this analysis easy for anyone. Our solution analyzes NGS experimental data and provides relevant information about the derived variants. Based on this information, clinicians can help find the causative variants of the disease. All of these processes are automated, so you can see the results of multiple samples in one upload.

Various clinical databases such as CLINVAR were applied to provide clinical information on genetic variation. Medysapiens provides information on the relationship between disease and mutation through the clinical database of the genetic variation found.

Various annotation DBs were applied to analyze variants without clinical DB information. By applying the variants allele frequency database within the population, it helps to interpret the clinical meaning by providing the ratio of variants within a specific population. It also provides in-silico prediction information for use in interpreting mutations.

Applying the ACMG guideline provides a clinical interpretation of the de novo mutation. It also provides information on the pathogenicity of mutations through medyspiens own AI mutation assessment model.

Our solution provides QC data for the sample, providing a basis for identifying anomalies in the experiment. Depending on the hospital, a report on the results of the analysis of mutations may be provided.

Neonatal ICU Target sequencing

Recently, the frequency of births of multiple and premature infants has increased significantly due to the increase in average age worldwide. As a result, more newborns are admitted to NICU. Depending on the country, NICU hospitalization rates are around 6-8% of newborns. In addition to the causes of premature birth, some hospitalized newborns are born with genetic disorders such as congenital metabolic disease, congenital immune disease, and congenital deafness.

Medysapiens, in collaboration with the top-class children's hospital and NGS test panel manufacturer in Korea, is developing and completing a target genetic test for NICU newborns, optimizing its own BI analysis solution to optimize NICU genetic testing / analysis Complete the platform. Indeed, some NICU newborns with hereditary disorders will continue to have an impact on later life if the action is delayed, although early diagnosis and appropriate action will lead to improved life. Medysapien's NICU Genetic Testing / Analysis Service provides targeted guidance on targeted genetic testing that focuses on actionable disease in newborns admitted to NICU, providing a timely diagnosis to ensure that the Golden Time is not missed and analytical guidance.

MedySapiens