Biostatistician / Computational Biologist in Statistical Genetics of Complex Eye Diseases

August 25, 2021

We are seeking a highly qualified and motivated Biostatistician with a strong background in statistics and
computational biology to study the genetic and biological causes of complex eye diseases, including
glaucoma, age-related macular degeneration, and diabetic retinopathy, and differential drug response. The
candidate will work under the supervision of Dr. Ayellet Segrè and Dr. Janey Wiggs in 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., eQTLs, single cell RNA-seq data) data with large-scale human association and
sequencing studies to identify causal regulatory mechanisms, genes and pathways that lead to common
eye diseases, with the ultimate goal of proposing new preventative and therapeutic targets for eye disease.
To learn more about the Segrè lab please visit: https://www.asegrelab.org.

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

CHARACTERISTIC DUTIES:
• Apply and develop pipelines for preprocessing, quality control, imputation, and phasing of
genotype data (array, whole exome, and whole genome-sequencing), using available and custombuilt tools.

• Pharmacogenetic study of differential response to diabetic retinopathy treatments.

• 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 genomic
and single cell transcriptomic 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 both collaborative and independent projects and write up work for publications.

REQUIRED EDUCATION AND EXPERIENCE:
• M.Sc. or Ph.D. in statistical genetics, (bio)statistics, computational genomics, bioinformatics,
mathematics, computer science, or a related quantitative discipline required. If MSc level, several
years of experience preferred

• 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 AND SKILLS:
• Research experience in statistical genetics, genomics, or next-generation sequencing desired.

• Background in regression models, machine learning, statistical genetics, or computational
genomics a plus.

• A strong motivation to contribute to the development of statistical methods for genomic research
of eye diseases.

WORKING ENVIRONMENT:
The Segrè and Wiggs 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 the Ocular Genomics Institute at MEE. The
candidate will work amongst a team of other computational biologists, data scientists, and students 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.

If interested, please send your CV, a cover letter describing your previous research experience and future
research interests, and contact information for 3 references to Dr. Ayellet Segrè: ayellet_segre [at] meei
[dot] harvard [dot] edu.