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    Opportunity: Statistical Geneticist of Complex Eye Diseases, Ocular Genomics Institute @ Massachusetts Eye and Ear, Harvard Medical School -- Boston, MA (US)
    Submitted by Ayellet Segre; posted on Sunday, August 18, 2019


    We are seeking a highly motivated and rigorous computational biologist to work on statistical genetics of glaucoma and other complex eye diseases, with Dr. Segrè and Dr. Wiggs at the Ocular Genomic Institute and Department of Ophthalmology at Massachusetts Eye and Ear (MEE). MEE is a teaching hospital of Harvard Medical School and is an international leader for treatment and research in both Ophthalmology and Otolaryngology. Dr. Wiggs, a glaucoma specialist at MEE, studies the genetic basis of common and rare forms of glaucoma, and leads the largest genome-wide association study (GWAS) meta-analyses for primary open angle glaucoma, with national and international collaborators. Dr. Segrè develops and applies new statistical and computational methods that integrate functional genomics (e.g., expression quantitative trait loci or eQTLs) and pathway data with large-scale human genetic data to identify new causal genes and regulatory mechanisms that lead to common eye diseases, including glaucoma, age-related macular degeneration, and diabetic retinopathy, with the ultimate goal of proposing new preventative and therapeutic targets for eye disease. To learn more about the labs please visit:

    The successful candidate will have a strong background in statistics, statistical genetics, computational genomics, bioinformatics, mathematics, or a related quantitative field, strong programming skills, and should be excited to contribute to advancing science and medicine of eye disease. Research experience with large-scale genomic data desired. Research projects will involve statistical analyses of large-scale genotype and phenotype data, including clinical data and ocular images, from the UK Biobank, and integration with functional genomics data, to identify novel genetic risk factors and genes associated with complex eye diseases.


    • Develop and implement pipelines for preprocessing, quality control, imputation, and phasing of genotype data (array, whole exome, and whole genome-sequencing), using available and custom-built tools.
    • Perform genetic association analyses at the variant, regulatory element, gene, and gene set levels in large cohorts (e.g., UK Biobank) to identify common and rare variants, genes, and pathways associated with glaucoma and other common eye diseases. Build polygenic risk scores.
    • Develop and apply new statistical and computational methods that integrate functional genomics and other biological data with genome-wide association and sequencing studies to gain biological insights into the causal mechanisms of eye disease.
    • Organize all scripts in a publicly available repository (e.g., github) with clear documentation.
    • Critically review, analyze, and communicate results to our team and collaborators.
    • Work on collaborative and independent projects, and contribute to publications.


    Required Education & Experience:
    • M.Sc. or Ph.D. in statistical genetics, (bio)statistics, computational genomics, bioinformatics, mathematics, computer science, or a related quantitative discipline required.
    • Strong programming skills and in-depth experience with several programming languages required, e.g., Python, R, Matlab, C++.
    • Experience with Unix/Linux environments required, including shell scripting.
    • Research experience with statistical analyses of large-scale data required; experience in the field of genomics and bioinformatics desired.
    • Demonstrate critical thinking, rigorous work, and ability to meet deadlines.
    • Strong personal skills, and excellent organization and verbal and written communication skills.
    • Ability to work effectively both independently and collaboratively in a fast-paced, academic environment and evolving field.


    Desired Experience & Skills:
    • Research experience in statistical genetics, genomics, or next-generation sequencing desired.
    • Solid knowledge of regression models and statistical learning.
    • A strong motivation to contribute to the development of statistical methods for genomic research.


    The Wiggs and Segrè labs are located in the main hospital building of Mass Eye and Ear (MEE), 243 Charles Street, in standard research and office work spaces of Ocular Genomics Institute at MEE. The candidate will work amongst a team of other computational biologists and computer scientists in the Ocular Genomics Institute, and will be part of a larger multidisciplinary research environment, which includes geneticists, clinical scientists, and experimental biologists. The candidate will have the opportunity to interact and collaborate with the Medical and Population Genetics community at the Broad Institute of Harvard and MIT, with whom our labs are affiliated.


    A competitive salary will be provided commensurate with experience, along with health and other benefits.


    Interested candidates should send their CV, a cover letter describing previous research experience and research interests, and contact information for 3 references to: Dr. Ayellet Segrè: ayellet_segre [at] meei [dot] Harvard [dot] edu and Dr. Janey Wiggs: janey_wiggs [at] meei [dot] harvard [dot] edu.


    Applications will be reviewed until position is filled.


    Massachusetts Eye and Ear is an affirmative action/equal opportunity employer.

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