Job Summary The focus of the Sampson Lab at Boston Children's Hospital/Harvard Medical School is to discover the molecular basis of nephrotic syndrome through human genomics to inform mechanisms, treatments, and cures for this disease. We integrate genomics data with other molecular and clinical datasets to discover the biological and clinical impact of the disease-associated genomic variants we discover. Our research also focuses on using multiomics datasets and cellular model systems to make definitive genomic diagnoses for individuals patients with nephrotic syndrome.
We now seek an enthusiastic and intellectually curious researcher interested in these broad research areas, particularly in leading investigations into personalized, next-generation approaches to genomic diagnosis.
Specific topic of interest include:
Co-analysis of germline genome sequencing and kidney/fibroblast-derived RNA-sequencing data in patients with nephrotic syndrome
Analysis of long-read genome and RNA-sequencing from kidney tissue of patients with nephrotic syndrome
Genome-wide association studies and eQTL studies of kidney diseases and traits
The applicant will have a strong understanding of human genetics, bioinformatics, and/or genome biology and skills in high-performance computing. They will use both well-established and newer methods for generation and analysis of diverse types of genomic data, including genome and exome sequencing, and bulk and single cell transcriptomics. They will drive their own projects and also support the efforts of other members of the group.
The Sampson Lab is located at Boston Children's Hospital and is affiliated with Harvard Medical School and the Kidney Disease Initiative of the Broad Institute of MIT and Harvard. It is well-funded through multiple Federal grants and other resources. It is a vibrant, highly collaborative, and multidisciplinary environment made up of nephrologists, computational geneticists, biostatisticians, and epidemiologists, and bench researchers.
Leading investigations into personalized, next-generation approaches to genomic diagnosis for children with proteinuric kidney disease.
Designing, troubleshooting, and analysis of diverse genomic discovery efforts using our own genomic & phenotypic data & those aggregated from publicly available resources.
Communication with external collaborators, and contributions to the preparation of manuscripts, grants, and presentations.
MS in genetics/genomics, biocomputing/bioinformatics, statistics, or a related field
Experience in any of the following: human genetics/genomics, variant calling, rare diseases, single cell approaches
Programming experience in UNIX, R, and/or Python
Familiarity with high-performance and/or cloud computing
Evidence of prior publication(s) and conference/oral presentations
Willingness to collaborate and interact with others
Minimum 2 years of prior technical experience
PhD in genetics/genomics, biocomputing/bioinformatics, statistics, or a related field
Working with bioinformatics analysis pipelines, code version control (e.g., git) tools and/or experience with standard bioinformatic tools (e.g., bcftools, htslib, samtools, PLINK, bedtools)
Familiarity with reproducible data science using Jupyter Notebook or RMarkdown, or other
Statistical analysis experience and/or a working understanding of biological systems
Boston Children's Hospital offers competitive compensation and unmatched benefits, including a rotating days/evenings and week-end schedule, affordable health, vision and dental insurance, generous levels of time off, 403(b) Retirement Savings plan, Pension, Tuition Reimbursement, cell phone plan discounts and discounted rates on T-passes (50% off). Discover your best.
Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care. As one of the largest pediatric medical centers in the United States, Children's offers a complete range of health care services for children from birth through 21 years of age.