Description
This is a temporary or on-call position providing professional support for a research study investigating prenatal contributions to autism spectrum disorder (ASD). The role involves performing next-generation sequencing (NGS) data processing and analysis, focusing on variant interpretation and curation for NGS panel data. The scientist will review clinical histories and phenotypic information, establish genotype-phenotype correlations, and assess variant pathogenicity using established guidelines and databases. Collaboration with researchers and communication of findings to healthcare professionals are essential aspects of the role.
