Wissenschaftliche Mitarbeiterin (w/d/m) - Genomforschung und Molekulare Diagnostik
Core
Research and clinical translation in genomic medicine, focusing on genetic diagnostics and variant interpretation for rare diseases.
Role type
Research scientist (genomic diagnostics)
Builds
Scientific variant assessments, clinical genetic reports, and research publications
Domain
Genomic medicine / Rare diseases
Required skills
Molecular genetics, Humangenetics, Whole-genome sequencing analysis, Variant interpretation (ACMG/AMP), Multi-omics integration, Next-generation sequencing
Preferred skills
Fiber-Seq technology, Long-read sequencing, Transcriptomics, Proteomics, Metabolomics
Technologies
PacBio HiFi, NovaSeq X, Short-read sequencing, Long-read sequencing, High-performance computing
Responsibilities
Establish new methods like Fiber-Seq for multi-omics characterization, experimentally validate genetic variants, analyze and interpret whole-genome sequencing data, evaluate genetic variants per ACMG/AMP guidelines, create genetic reports, identify new disease-associated genes, integrate genomic data with clinical data, participate in research projects and publications
Seniority
Mid-level researcher (Master's or PhD)