Clinical genetics and research
Benchmark assembling for genetic tests based on NGS and genotyping data for one of top 10 american Childrens’s Hospitals.
We provided clinical and research bioinformatics support and pipelines development, optimization, testing and validation. We compared program solutions and their parameters, developed our own in house algorithms, participated in development of pipelines for gene panel analysis, WES and WGS, for trio analysis, family analysis and tumor/normal, including RNA-seq expression data. We provided quality control assessment for pipelines, methods and technologies. We performed time series analysis, GWAS, populational studies, ethnicity predictions, sex and relatedness prediction, estimations of haplogroups, blood types and other phenotypic features. We prepared materials for publications according to client’s tasks including 3d visualization of protein models with mutations and estimates of theirs effect on protein stability and function.
Programs, methods, algorithms, pipelines, databases and models are used extensively by the client for clinical genetic testing of patients and their families, in grant proposals, in research and scientific publications.