Resources
Cloud Storage & Data Management Strategy for NovaSeq X+ Data
Poster
Posted on Mar 29, 2024
Optimizing Methylation Pipeline: Migration from Snakemake to Nextflow and Deployment on Seqera Platform for Efficiency and Cost Benefits
Poster
Posted on Mar 29, 2024
Workflow Management Systems: Our Software Solutions using Nextflow and Snakemake
Case Study
Posted on Mar 29, 2024
Our
Featured
Publications
Clinical Chemistry
Aug 2021
Determining Cost-Optimal Next-Generation Sequencing Panels for Rare Disease and Pharmacogenomics Testing
Multi-gene panel sequencing using next-generation sequencing (NGS) methods is a key tool for genomic medicine. However, with an estimated 140,000 genomic tests available, current system inefficiencies result in high genetic-testing costs.
BMC Medical Genomics
Apr 2021
Validation of whole genome sequencing from dried blood spots
Dried blood spots (DBS) are a relatively inexpensive source of nucleic acids and are easy to collect, transport, and store in large-scale field surveys, especially in resource-limited settings. However, their performance in whole-genome sequencing (WGS) relative to that of venous blood DNA has not been analyzed for various downstream applications.
Cancer Medicine
Sep 2018
Analysis of solid tumor mutation profiles in liquid biopsy
Liquid biopsy is increasingly gaining traction as an alternative to invasive solid tumor biopsies for prognosis, treatment decisions, and disease monitoring. Matched tumor-plasma samples were collected from 180 patients across different cancers with >90% of the samples below Stage IIIB.
Breast Cancer Research and Treatment
Feb 2018
Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations
Breast and/or ovarian cancers are among the most common cancers in women across the world. In the Indian population, the healthcare burden of breast and/or ovarian cancers has been steadily rising, thus stressing the need for early detection, surveillance, and disease management measures. However, the burden attributable to inherited mutations is not well characterized.
Cancer Medicine
Apr 2017
StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors
Comprehensive genetic profiling of tumors using next-generation sequencing (NGS) is gaining acceptance for guiding treatment decisions in cancer care. We designed a cancer profiling test combining both deep sequencing and immunohistochemistry (IHC) of relevant cancer targets to aid therapy choices in both standard-of-care (SOC) and advanced-stage treatments for solid tumors.
download the case study.