Technical NGS Variant Scientist

Variantyx leads the clinical genomics industry, offering a pioneering whole-genome test for diagnosing

rare diseases. Variantyx is known for its cutting-edge tools and collaborative approach, providing

professionals with rewarding career opportunities. Our testing covers small sequence variants, copy

number and structural variations, short tandem repeats, mitochondrial genetics, and chromosomal

abnormalities, setting a new standard for genetic diagnostics.

Primary Responsibilities:

• Provide technical variant analysis support to the clinical variant interpretation team. Be a go to person

in confirming validity of Small Sequence Changes, Structural Variants, Short Tandem Repeats, Mobile

Element Insertions and Mitochondrial Variants.

• Assess difficult to sequence variants in non-uniquely mappable, homologous, repeat or GC rich regions.
• Asses complex genomic rearrangements
• Provide feedback to the development bioinformatics team and participate in drawing variant calling and visualization development plans.

Qualifications & Requirements:

• Master’s degree in bioinformatics/Genomics or other relevant discipline or equivalent experience required. PhD is a plus.
• Experience in analysis of NGS data for germline disease; familiarity with long read data such as Oxford Nanopore or PacBio, is a plus.
• Experience with IGV and other visualization tools
• Deep understanding of NGS workflow, alignment and variant calling.
• Demonstrated attention to detail and analytical skills.
• Excellent communication skills.
• Highly collaborative and able to work well in a team.
• Desire to contribute to a fast paced, exciting work environment.