Job: Two exiting bioinformatician positions open related to the 100,000 genomes project.
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3.3 years ago by
mcmurry.julie50 wrote:

Two exiting bioinformatician positions open related to the 100,000 genomes project.

We seek two bioinformaticians to contribute to the delivery of high-quality research under the supervision of Dr. Damian Smedley.

As a member of our team, you will contribute to the analysis and presentation of findings from the International Mouse Phenotyping Consortium (IMPC). The IMPC is a successful collaboration of some 20 institutes world-wide that aims to produce the first comprehensive, functional catalogue of a mammalian genome by systematic phenotyping of mouse knock-outs for every protein-coding gene in the mouse. The NIH-KOMP3 grant that funds the majority of this work was recently renewed for ~$100m over the next 5 years, including the informatics component (MPI2) consisting of teams at the European Bioinformatics Institute, MRC Harwell and QMUL. MPI2 is responsible for all data collection, QC, and analysis of the phenotypes as well as the presentation of the results on the IMPC portal. The postholder will be responsible with other members of the QMUL team for the maintenance and improvement of the human disease association pipeline as well as other research projects to investigate how the phenotypes relate to protein function, pathways, disease mechanisms and potential therapeutic interventions for patients containing disruptions of the same genes. There will be strong interactions with other members of the team that are funded through the Monarch Initiative to collaboratively develop the phenotype similarity algorithms that underlie much of our IMPC work as well as the Exomiser and Genomiser software suite of phenotype-aware variant prioritisation software being used in many large scale disease sequencing studies such as the 100,000 Genomes Project. Dr. Smedley holds a joint position as Director of Genomic Interpretation at Genomics England that is delivering the 100,000 Genomes Project and a major focus is on functional validation through IMPC resources of candidate variants from NHS patients enrolled in the project.

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