At Boston Children's Hospital, success is measured in patients treated, parents comforted and teams taught. It's in discoveries made, processes perfected, and technology advanced. In major medical breakthroughs and small acts of kindness. And in colleagues who have your back and patients who have your heart. As a teaching hospital of Harvard Medical School, our reach is global and our impact is profound. Join our acclaimed team and discover how your talents can change lives. Yours included.
The Genomics and Bioinformatics Group in Research Computing at the 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.
This 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:
A PhD in human genetics, molecular biology, or related field OR Genetic Counselor with clinical laboratory experience OR ABMG board-eligible molecular genetics, biochemical genetics, or cytogenetics OR Master's degree in genetics, molecular biology or related field with 3 years of 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.
Boston Children's Hospital offers competitive compensation and unmatched benefits, including affordable health, vision and dental insurance, generous levels of time off, 403(b) Retirement Savings plan, Pension, Tuition Reimbursement, and discounted rates on T-passes. Discover your best.
Boston Children's Hospital is an Equal Opportunity / Affirmative Action Employer. Qualified applicants will receive consideration for employment without regard to their race, color, religion, national origin, sex, sexual orientation, gender identity, protected veteran status or disability.
Internal Number: 2820140
About Boston Children's Hospital
Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care. As one of the largest pediatric medical centers in the United States, Children's offers a complete range of health care services for children from birth through 21 years of age.