Shift/Schedule:  Either normal business hours M-F (with occasional weekend duties) or a shifted schedule of Su-Th or Tu-Sa.

We are further building our team and these individuals will be working directly with production data on a daily basis.  The team as a whole is responsible for the evaluation of the truth of clinically reportable variants and is often required to investigate unique genetic or genomic signals identified in production data. In addition to handling production data, the team is responsible for monitoring data quality metrics and troubleshooting the root cause of quality control failures related to both the mainline NGS and confirmatory assays. All of the team’s work directly impacts patient results, making problem-solving both motivating and rewarding. 

What you will do:

• Visualizing and assessing specific genetic variants that are flagged for manual review and analyzing corresponding NGS data
• Troubleshooting quality control anomalies generated by automated pipelines
• Analyzing results from confirmatory assays
• Work collaboratively with other teams such as bioinformatics, clinical genetics, laboratory scientists, laboratory directors, and research scientists in a cross-functional manner

What you will bring:

• Experience with NGS data analysis in either academic or industry environment
• Familiarity with common NGS alignment, variant calling, and visualization tools
• Strong knowledge of genetics
• Familiarity and/or hands-on experience with NGS wet lab protocols, preferably in a production setting
• Excellent written and verbal communication skills
• Location is remote/flexible
• Position requires availability either normal business hours M-F (with occasional weekend duties) or a shifted schedule of Su-Th or Tu-Sa.
• Typically requires a Bachelor’s degree in bioinformatics, human genetics, or related field and a minimum of 2 years of related experience; or an advanced degree without experience. Any equivalent combination of training, education, and experience that provides the required skills, knowledge and abilities.

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