Job: Variant Curator/ Bioinformatics Scientist
0
gravatar for shira.rockowitz
3 months ago by
shira.rockowitz10 wrote:

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.

job genomics • 133 views
ADD COMMENTlink written 3 months ago by shira.rockowitz10
Please log in to add an answer.

Help
Access

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 16.09
Traffic: 125 users visited in the last hour