Bioinformatics Engineer, Hard To Do Team

    • Flexible / Remote

Invitae is a genetic information company whose mission is to bring genetics into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in diagnostic testing for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with high quality, faster turnaround time, and a lower price than virtually any other comparable test available today. Our genetic testing capabilities span more than 1,500 disease genes tested with next-generation sequencing and have delivered results for more than 500,000 patients referred for a variety of disorders in oncology, cardiology, neurology, pediatrics and rare disease.

Invitae has invested over $100 million in developing state-of-the-art next-generation sequencing (NGS) infrastructure coupled with robust bioinformatics algorithms specifically tailored for high sensitivity and specificity, enabling detection of several types of pathogenic changes, including single nucleotide variants, indels, rare structural variants, and exonic deletions and duplications. We perform full-gene sequencing and exon-level deletion/duplication analysis of all genes from NGS data itself.

There are many clinically relevant genes that are associated with human disease but are technically challenging, from a sequencing or variant calling perspective, when using a typical bioinformatics pipeline. Traditionally, clinical molecular testing for these genes is costly, expensive, time consuming, and not scalable. The mission of Invitae’s HTD team is to discover innovative solutions to tackle these technically challenging regions of the genome, in a scalable way, that results in high quality, faster turnaround time, and lower cost than traditional methods. This team will focus on clinically relevant regions of the genome that suffer from, but are not limited to: highly paralogous sequence, regions of low complexity, active gene conversion or gene fusion events, haplotyping, repeat elements, and epigenetic marks. By better understanding the limitations of traditional approaches such as in-solution hybridization capture, Illumina short read sequencing, reference genome inaccurateness/incompleteness, and off the shelf variant calling packages such as GATK, we can make modifications to existing tools or implement novel technologies to answer these complex questions.

What you bring:

  • PhD in bioinformatics or related area with at least 3 years of post-degree experience in bioinformatics, preferably in industry or a cutting edge and research-oriented academic institution; or Master’s degree with experience sufficient to demonstrate equivalency
  • Strong understanding of genetics, molecular biology approaches and NGS applications
  • Knowledge/expertise in population/quantitative genetics a strong plus
  • Strong understanding of the strengths and weaknesses of hybridization capture + Illumina short-read sequencing
  • Understand underlying issues contributing to NGS read artifacts and provide solutions, from both wet lab and informatics perspectives
  • Experience handling long read and synthetic long read datasets
  • Experience contributing and reading from large, shared code repositories with a preference for Python
  • Proactive self-starter with strong troubleshooting skills able to conduct and plan independent projects with minimal supervision 

By joining Invitae, you’ll work alongside some of the world’s experts in genetics and healthcare at the forefront of genetic medicine. We’ve created a culture that empowers our teams and our teammates to have the biggest impact and to explore their interests and capabilities. We prize freedom with accountability and offer significant flexibility, along with excellent benefits and competitive compensation in a fast-growing organization. 

Join us. 

At Invitae, we value diversity and provide equal employment opportunities (EEO) to all employees and applicants without regard to race, color, religion, national origin, gender, sexual orientation, age, marital status, veteran status, or disability status. We will consider for employment qualified applicants with criminal histories in a manner consistent with the requirements of the San Francisco Fair Chance Ordinance.

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