Job ID: 7386BR
Job date: 2017-03-16
End Date:
Company : Illumina, Inc Country : Role : Research Scientist
Job date: 2017-03-16
End Date:
Company : Illumina, Inc Country : Role : Research Scientist
Job Description:
The Illumina Clinical Services Lab is a CLIA/CAP-accredited lab that offers multiple tests based on whole genome sequencing - TruGenome Predisposition (Carrier) Screening and TruGenome Undiagnosed Disease Tests. This project involves supporting the software development group to aid and improve solutions that are currently in place. The team also seeks to add new capabilities to enable variant curation, classification and report generation, and also to improve our workflow/operational efficiency. Responsibilities: -Improvements to ICSL’s TruGenome Undiagnosed Disease software solution (Nussetti). -Visualization of Copy Number and Structural Variants to enable curation and interpretation, -Contribution to development of ICSL’s Variant Interpretation Tool (VIT). -Contribution to the ICSL software development vision and strategic direction. Particularly, engage in the definition of requirements related to integration with electronic test requisition, platform storage of common data and clinical metadata, development of a genomic health record. -Gather requirements from genetic counsellors and medical geneticists for implementation of software solutions. -Participation in research around evaluation of bioinformatics variant calling tools (Strelka & SPW). Required Skills & Experience: -Working knowledge of Python, C#, JavaScript, Angular, d3.js, HTML, CSS. -Familiarity with NGS data output formats (BAM, VCF, etc.). Knowledge of Illumina annotation software and outputs, such that the software can be used to generate the required outputs for visualisation. -Familiarity working in a regulated environment. -Up to date understanding of the outputs of the current Illumina pipelines including the Northstar 4, 5 and 6 pipelines, such that the outputs can be used for visualization purposes. -Ability to see the big picture but also dive into details and move from idea to production ready software product. -Solid communication and team working skills.
Additional Info:
[Click Here to Access the Original Job Post]
The Illumina Clinical Services Lab is a CLIA/CAP-accredited lab that offers multiple tests based on whole genome sequencing - TruGenome Predisposition (Carrier) Screening and TruGenome Undiagnosed Disease Tests. This project involves supporting the software development group to aid and improve solutions that are currently in place. The team also seeks to add new capabilities to enable variant curation, classification and report generation, and also to improve our workflow/operational efficiency. Responsibilities: -Improvements to ICSL’s TruGenome Undiagnosed Disease software solution (Nussetti). -Visualization of Copy Number and Structural Variants to enable curation and interpretation, -Contribution to development of ICSL’s Variant Interpretation Tool (VIT). -Contribution to the ICSL software development vision and strategic direction. Particularly, engage in the definition of requirements related to integration with electronic test requisition, platform storage of common data and clinical metadata, development of a genomic health record. -Gather requirements from genetic counsellors and medical geneticists for implementation of software solutions. -Participation in research around evaluation of bioinformatics variant calling tools (Strelka & SPW). Required Skills & Experience: -Working knowledge of Python, C#, JavaScript, Angular, d3.js, HTML, CSS. -Familiarity with NGS data output formats (BAM, VCF, etc.). Knowledge of Illumina annotation software and outputs, such that the software can be used to generate the required outputs for visualisation. -Familiarity working in a regulated environment. -Up to date understanding of the outputs of the current Illumina pipelines including the Northstar 4, 5 and 6 pipelines, such that the outputs can be used for visualization purposes. -Ability to see the big picture but also dive into details and move from idea to production ready software product. -Solid communication and team working skills.
Skills :
Areas :
Additional Info:
[Click Here to Access the Original Job Post]