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DataTecnica LLC · 8 hours ago

Genetics Scientist (Whole Genome Sequencing)

United States

Full-time

Remote

Mid, Senior Level

$100K/yr - $200K/yr

DataTecnica is a biomedical AI company specializing in analytics for neurological and other diseases. They are seeking a Genetics Scientist (Whole Genome Sequencing) to assist with WGS data processing and variant discovery for precision medicine programs targeting Parkinson’s disease risk and progression.

Artificial Intelligence (AI)BiopharmaBiotechnologyCloud Data ServicesGeneticsHealth CareInformation TechnologyMachine LearningNeuroscienceSoftware

Responsibilities

Assist with quality control and processing of WGS data from diverse cohorts from around the world

Perform joint calling (DRAGEN) and other pipelines (Gauchian, STR, SV, and others)

Help prepare data to be released to researchers as part of a bi-annual data release schedule

Execute rare variant burden tests (REGENIE) for coding and regulatory variants

Perform variant annotation and functional prediction using VEP, SnpEff, CADD, and splice prediction tools

Write and publish papers based on rare variant and SV analyses

Collaborate with GWAS team to follow up loci with WGS characterization

Support multi-omic integration and follow-up

Assist GP2 contributing cohorts with analyses in their cohorts and other monogenic analyses being conducted by GP2

Contribute to training efforts and materials where necessary

Qualification

WGS data processingVariant discoveryWGS variant callingRare variant burden testingSTR analysis toolsStructural variant callersVariant annotation toolsRPythonCloud-based genomics platformsPopulation genetics principlesNeurodegenerative disease geneticsRepeat expansion disordersMulti-ancestry WGS dataNon-coding variant interpretationLong-read sequencing dataWorkflow languages

Required

MS or PhD in Human Genetics, Computational Biology, Bioinformatics, Genomics, or related quantitative field

Published experience with WGS data processing and variant discovery (first-author publications demonstrating technical expertise)

Expert-level proficiency in WGS variant calling pipelines

Strong command of STR analysis tools (ExpansionHunter, GangSTR, HipSTR, or similar)

Experience with structural variant callers

Proficiency in rare variant burden testing frameworks (SAIGE-GENE, REGENIE, RVAT, or similar)

Expert knowledge of variant annotation tools (VEP, SnpEff, ANNOVAR) and functional prediction databases

Proficiency in R and/or Python for genomic data analysis and visualization

Hands-on experience with cloud-based genomics platforms (e.g., Terra, Verily Workbench, UK Biobank Research Analysis Platform, DNAnexus, or equivalent)

Strong understanding of population genetics principles (allele frequency, linkage disequilibrium, Hardy-Weinberg equilibrium)

Track record of working with biobank-scale WGS datasets (10K+ samples)

Preferred

Experience with Parkinson's, Alzheimer's, or neurodegenerative disease genetics

Familiarity with repeat expansion disorders and known pathogenic STRs (C9orf72, HTT, ATXN2, etc.)

Experience with multi-ancestry WGS data and population-specific variant interpretation

Knowledge of non-coding variant interpretation and regulatory element analysis

Experience with long-read sequencing data (PacBio HiFi, ONT) for complex variant resolution

Publications in high-impact genetics or genomics journals

Experience with workflow languages (WDL/Cromwell, Nextflow, Snakemake)

Company

DataTecnica LLC

CURATE | ANALYZE | TRANSLATE | COMMUNICATE | INNOVATE Our goal is building better healthcare by accelerating innovation and maximizing the potential of scientific communities.

Founded in 2019

Washington, District of Columbia, USA

11-50 employees

https://www.datatecnica.com

Funding

Current Stage

Early Stage

Leadership Team

Mike Nalls

Founder, CEO, and Consultant

Company data provided by crunchbase