Molecular Genetics Analysis Assistant I

About the role

The Molecular Genetics Analysis Assistant I performs quality control, reviews genetic sequencing data to determine variant identity based on HGVS standards, orders variant confirmations, and monitors the status of clinical cases.

Responsibilities

• 25%: Quality control review of clinical samples and NGS data
• 50%: Analyzing clinical genomics data, including variant identity using HGVS standards, variant checking in IGV, trinucleotide repeat analysis, and ordering confirmation testing
• 25%: Case tracking and turnaround time monitoring

Qualifications

• Required: Bachelor of Science (BS) in Genetics or related field
• Desired: Master’s, PhD, MD, and/or MB(ASCP)
• Experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages

Skills

• Familiarity with concepts of genetics data analysis
• Expertise in concepts of clinical medicine, genetics, genomics, or molecular biology
• Experience in data quality assessment and communicating genetic details effectively
• Excellence in reading/writing medical language
• Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook)

Schedule

Occasional weekend rotation may be needed (for example, once a month).

Work environment

Frequently required to sit, using screen, keyboard, and mouse. Punctuality attending virtual meetings.