Sr. Scientist – Algorithms will be part of a growing Clinical Genomics team of Bioinformaticians, Lab Scientist, Data Curation Scientists, Clinicians and Medical Fellows. Clinical Genomic Service (CGS) is a collaboration between Stanford Hospitals and Stanford School of Medicine to deliver best-in-class genomics service to Stanford community. CGS plans to use multi-omics (Whole Exome and Transcriptome) analysis approach to diagnosis. This position is responsible for developing novel algorithms for DNASeq and RNASeq for use in a diagnostics setting. This position, as part of the algorithm development team will help with benchmarking of bioinformatics tools and with rapid prototyping of new methods/tools. This position will interface with the Curation team to identify gaps in variant detection and annotation and develop novel algorithms and methods to fill those gaps.
- Benchmark community NGS algorithms and tools against NIST/GiaB truth sets.
- Develop an extensive regression suite consisting of reference genomes (GA4GH/NIST) against which the various algorithms will be benchmarked.
- Help with rapid prototyping of novel algorithms using R, Matlab.
- Develop best protocols for analysis of NGS data including optimization of parameters, and consensus approaches across various tools.
- Work closely with the data curators and genetic counselors to identify gaps in variant detection and annotation algorithms in current pipeline and suggest novel approaches to improve diagnosis.
- Keep up to date with latest developments in applications of NGS in clinical diagnostics.
- Help algorithms team participate in PrecisionFDA challenges.
- Maintain a high profile in the NGS and Bioinformatics community through publications, conference presentations and collaborations.