Clinical Genomics Analyst: Variant Analysis & QA

Baylor Genetics; United States; On-site; USD 90,000 - 140,000; Full time

Job summary

Baylor Genetics, a leader in clinical molecular genetics, seeks a Molecular Genetics Analysis Assistant to perform quality control and review sequencing data according to HGVS standards, order confirmations, and monitor clinical case status.

The role emphasizes advanced variant analysis, data interpretation, and mentoring colleagues to improve analytical quality and operational performance within the CGI division.

Qualifications

• BS in Genetics or related field; advanced degrees preferred.
• 5+ years of relevant experience in clinical genomics.
• Advanced experience in genomic variant analysis with HGVS notation; IGV review.
• Ability to train and mentor colleagues; drive workflow improvements.
• Strong understanding of clinical genomics workflows and testing methodologies.
• Excellent reading/writing of medical language.

Responsibilities

• 25%: quality control review of clinical samples and NGS data.
• 50%: analyze clinical genomics data, including HGVS variant identity, IGV checks, trinucleotide repeat analysis, ordering confirmations.
• 25%: case tracking and monitoring turnaround times.

Skills

HGVS nomenclature

IGV review

Variant analysis

Genomics workflows

Data quality assessment

Communication skills

Microsoft Office

Bioinformatics

Scripting

CNV concepts

ACMG guidelines

Pharmacogenomics

Education

Bachelor's in Genetics

Master’s/PhD/MD/MB(ASCP)

Tools

IGV

CNV tools

Python/R scripting

MS Office

Excel

Job description

Baylor Genetics, a leader in clinical molecular genetics, seeks a Molecular Genetics Analysis Assistant to perform quality control and review sequencing data according to HGVS standards, order confirmations, and monitor clinical case status.

The role emphasizes advanced variant analysis, data interpretation, and mentoring colleagues to improve analytical quality and operational performance within the CGI division.