Bioinformatics Scientist - III (Senior)

About the role

Primary Talent Partners has a new contract opening for a Bioinformatics Scientist - III (Senior) to join a pharmaceutical client in Cambridge, MA. This is a 23‑month contract with potential extensions.

Responsibilities

• Data Ingestion: Query and harmonize external resources to acquire relevant genetic, genomic, and multi‑omics datasets (e.g., dbSNP, 1000 Genomes Project, gnomAD, GTEx, Ensembl, Open Targets, ClinVar, GWAS Catalog, UK Biobank, Gene Expression Omnibus).
• Genetic/Genomic Data Analysis: Perform QC and analysis of genetic/genomic data, including genotype imputation from array data, variant calling and annotation using state‑of‑the‑art methods (e.g., IMPUTE, Minimac, Eagle, BEAGLE, GATK, bcftools, samtools, ANNOVAR, VEP).
• Statistical Genetics: Conduct genetic association analyses at scale, including GWAS/PheWAS, rare‑variant burden and collapsing tests, fine‑mapping, colocalization, polygenic scores, and Mendelian randomization (e.g., PLINK, REGENIE, SAIGE, GCTA, SuSiE, coloc, LDSC).
• QTL Analysis: Conduct QTL analysis to identify genetic loci associated with quantitative and molecular traits, including eQTL, sQTL, and pQTL mapping, utilizing tools such as tensorQTL, FastQTL, PLINK, or R/qtl.
• Population Genetics Analysis: Analyze genetic variation across populations, including allele frequency estimation, linkage disequilibrium, relatedness, and ancestry/population structure analysis.
• Machine Learning: Develop, benchmark, and validate machine learning models on high‑dimensional genetic and molecular data for tasks such as variant effect prediction, patient stratification, and biomarker or treatment‑response prediction; apply rigorous cross‑validation, control for batch and ancestry confounding, and use interpretability methods to translate models into testable biological hypotheses (e.g., scikit‑learn, XGBoost, PyTorch, SHAP).
• Multi‑Omics Data Integration: Integrate genetic datasets with other omics layers, including transcriptomic (bulk and single‑cell RNA‑seq), epigenomic, proteomic (e.g., OLINK, mass spectrometry), and spatial data, to provide comprehensive insights into gene function and disease biology (e.g., DESeq2, limma, Seurat, scanpy).
• Documentation and Reproducibility: Prepare detailed documentation of analysis methods and results in a timely manner, and deliver version‑controlled, reproducible analysis workflows (e.g., Git, Nextflow, Snakemake).

Requirements

• Ph.D. in Genetics, Genomics, Statistical Genetics, Computational Biology, or a related field.
• A proven track record of over 5 years in genetic data analysis.
• Strong understanding of statistical methods and genetic data analysis and integration (e.g., variant analysis, GWAS and QTL mapping, population genetics, genomic annotations).
• Demonstrated experience applying machine learning to high‑dimensional biological data, including feature engineering, model selection, validation, and avoidance of overfitting and confounding.
• Hands‑on experience integrating multi‑omics data (e.g., transcriptomics, proteomics, epigenomics) with genetic data.
• Proficiency in R, Python, and Bash, with the ability to establish best practices for reproducible data analyses.
• Experience with high‑performance computing (HPC) systems and AWS Cloud Computing (e.g., IAM, S3 buckets).
• A collaborative and self‑motivated individual with a strong work ethic, capable of managing multiple objectives in a dynamic environment and adapting to changing priorities.
• Excellent written and verbal communication skills.
• Legally authorized to work in the United States and able to sit on Primary Talent Partners W2 without sponsorship.

Skills

• Proficient in human genetic/human genomic data analysis tools and techniques (variant analysis, population genetics, genomic annotations).
• Machine Learning.
• Multi‑Omics Data Integration.
• Proficiency in R, Python, and Bash.
• High‑performance computing (HPC) systems and AWS Cloud Computing (e.g., IAM, S3 buckets).

Pay

$95.00 – $105.00 per hour; W2 contract, no PTO, no Benefits. ACA‑compliant supplemental package available for enrollment.

Benefits

No PTO, no traditional benefits; ACA‑compliant supplemental package available for enrollment.