The Genomics and Bioinformatics Group in Research Computing at Boston Children’s Hospital (BCH) seeks to hire a Variant Curator / Bioinformatics Scientist. We are seeking creative people with solid analytical capabilities and programming experience. The group is supporting a strategic initiative at BCH to develop streamlined mechanisms to sequence and identify causal genes in patients participating in research, to discover new genes underlying Mendelian diseases; to develop collaborative networks of investigators to facilitate gene discovery, validation and follow-up; and to generate new methods for gene discovery applicable across a wide spectrum of pediatric disorders. We are supporting scientists performing exome sequencing on thousands of unsolved Mendelian cases and family members.
The Variant Curator/ Bioinformatics Scientist will be responsible for: - Analysis and interpretation of complex genomic data in a pediatric research setting. - Actively participating in identifying variants eligible for clinical reporting with leading genomics research laboratories and contribute to providing a path for families and individuals to end their medical odyssey. - This will include variant classification according to established criteria based on the published American College of Medical Genetics and Genomics (ACMG) guidelines, and will also involve clinical correlation of gene/variant with patient phenotype, scientific literature review, and/or report writing for both targeted and high-complexity genomic tests. - Participating in education and mentorship of other analysis staff and collaborators through direct interaction and presentations. All activities occur with a moderate degree of supervision with some latitude for independent judgment, development of genetic testing workflows and processes, and presentation of results.
To qualify, you must have: - An advanced degree in human genetics, molecular biology, or related field OR be a Genetic Counselor with experience - Familiarity with NGS clinical testing, databases, tools, and resources commonly used in the interpretation of genomic data. - Experience with bioinformatics, next-generation sequencing, and exome or whole genome sequence analysis is preferred. - Experience with genetic variant curation and/or sequence variant classification based on the ACMG guidelines is highly desired. - Computer programming (e.g. r/Python) and/or bioinformatics experience would be a plus.
Please apply directly.