Research associate - Genomic Analyst

Advantageous vacation plan: 4 weeks during probation (1 year), 5 weeks thereafter
13 public holidays and 9.6 sick days
Maternity, paternity and adoption leave
Defined benefit pension plan (RREGOP)
Group insurance for you and your family, including additional life insurance
Employee and family assistance program
Wellness program promoting physical and psychological well-being based on employee needs (physical activities in the gym, healthy eating, massage therapy, etc.);
Career development and stimulating challenges
Career development program
Collaborative work with all players at the university hospital center

Are you passionate about genomic research? Would you like to work in a leading research center and take part in large-scale projects?

Our client, a major university hospital center in Montreal, is looking for a Research Associate in Genomic Analysis to complete the team leading two major research projects focused on the development and evaluation of new genomic modalities for the investigation of rare genetic diseases.

Reporting to the Research Department, the research professional will identify, annotate and analyze genetic variants from genotyping and sequencing data.

Your missions

Active participation in writing and reviewing grant applications led by the Research Department for major initiatives
Work with a team of physicians, scientists, genetic counselors, bioinformaticians and research coordinators to ensure the analysis of genomic data from various research projects
Analysis of genome and transcriptome sequencing data. The data to be analyzed will come in part from long-read whole-genome sequencing using PacBio's Revio system and Oxford Nanopore's Promethion system
Interpretation and classification of genomic variants and methylation profiles detected in patients with regard to their relevance to human diseases, drawing on various resources (tools for predicting the functional impact of variants, internal and external databases, etc.)
Interpretation of patient transcriptomic profiles to validate splice variants and measure expression levels of candidate genes
Maintenance of complete and accurate documentation of procedures and data analyzed and supporting evidence, and presentation of results to study teams
Development and maintenance of databases
Participation in the development, implementation and evaluation of ongoing and emerging initiatives
Participation in student training
Participation in the development of operational procedures, the evaluation of new genomic technologies and assisting in the drafting of articles and publication projects.
Your profile:

PhD in molecular genetics or other relevant discipline, with experience in genomic data analysis and interpretation
Experience in genomic variant interpretation and variant interpretation guidelines, and ability to use relevant genomic databases, tools and resources for genomic data interpretation (e.g. UCSC, gnomAD, DGV, ClinVar, DECIPHER, IGV)
Familiarity with diagnostic genomic technologies
Ability to critically analyze and interpret medical/scientific literature
Proactivity and ability to work independently with minimal supervision
Good management of priorities and time, speed of execution
Good understanding of French, ideally bilingual
Asset:

Expert in clinical genomics and/or Canadian College of Medical Geneticists (CCMG) certification.
IMPORTANT:

Foreign candidates must have a valid work permit authorizing them to ''work in a job related to child care, primary or secondary education, or the health field''.

Do you recognize yourself in this description? We invite you to apply and look forward to meeting you.

PhD in molecular genetics or other relevant discipline, with experience in genomic data analysis and interpretation
Experience in genomic variant interpretation and variant interpretation guidelines, and ability to use relevant genomic databases, tools and resources for genomic data interpretation (e.g. UCSC, gnomAD, DGV, ClinVar, DECIPHER, IGV)

https://adoc-tm.breezy.hr/p/3abdbd0caf9c01-associ…