A genomic sequencing panel for transplantation pharmacogenomics

摘要

Abstract: I have developed a Genomic Sequencing Panel based assay for Transplantation Pharmacogenomics, and the process to select the right drug combination for the patients undergoing Solid-Organ Transplantation. The transplantation pharmacogenomics assay panel developed is aimed to provide the pharmacogenomic response of immunosupressant and anti-hypertensive medications for a patient undergoing solid-organ transplantation such as Kidney, Liver or Heart Transplant, so that the most-suitable drug with best efficacy is selected for the patient, and enhance the general well-being of the recipient. This test assay has 115 human genes that are selected through a comprehensive evaluation of research papers and rigorous screening of existing data-set using proprietary methods. The coding regions of these genes are enriched and sequenced using Next Generation Sequencing method. The sequence reads will be quality filtered and trimmed using custom software pipeline and parameters developed in accordance with Standard Operating Protocol (SOP) and ACMG Guidelines. The high quality sequence reads then will be aligned to the Human genome and single nucleotide variations (SNVs) in each patient will be called using appropriate softwares. The discovered SNVs will be annotated, classified and filtered against an in-house developed pipeline and curated throughly for reporting clinically relevant observations. Proprietary softwares pipes are developed for accurate and automated analysis of sequence reads for maintaining uniformity of analysis, enhancing speed and reducing manual errors. This assay provides insights to recepient"s compatibility response to immunosuppressant and anti-hypertensive drugs and their pharmacodynamics.