Never forget that humility is the mark of greatness
Welcome to The Short Read, our weekly peek behind the curtain at the people who make this amazing community tick. Make sure to check back every Tuesday for the latest installment.

Anja Seffner

Anja Seffner, Clinical Application Product Manager, SOPHiA GENETICS.

Anja Seffner graduated from Bielefeld University, Germany, obtaining a Master’s degree in Molecular Biotechnology. She worked as an Application Specialist for Next Generation Sequencing Instruments at Roche, supporting clients and internal colleagues with workflow and application training and troubleshooting. She then joined the largest German private lab group to establish Next Generation Sequencing in a routine diagnostic laboratory. She was also in charge of managing the NGS unit, validating the NGS workflow for HIV resistance testing, processing patient samples, analysing and interpreting results, as well as, developing new assays and applications. She joined the Swiss start-up SOPHiA GENETICS in the first half of 2016 as Clinical Application Product Manager, focusing on large panel applications and new features for the company’s analytical platform, SOPHiA DDM®.

Anja will be speaking at the third Festival of Genomics London in January 2018. On day one she will be presenting on ‘Solving the complexity within genomic data analysis with SOPHiA AI’.

In my role as a product manager, I develop new NGS-based applications as well as features for SOPHiA DDM platform. Therefore, I collect user requirements and then work with the developers to implement, test and release them to SOPHiA DDM. Currently, we are working on enhancing the features and workflows to facilitate large panel variant interpretation (e.g. trio analysis).


What’s the biggest challenge you face in your work at the moment?

With SOPHiA GENETICS growing so quickly and now being active in over 50 countries, it is sometimes hard to manage all incoming requests at the same time. Many countries mean many different needs. Bringing them all together and solving them in a timely and efficient manner, is sometimes challenging.


Name one big development that you would like to see in your field in the next 18 months.

The widespread application of collective intelligence within the Healthcare sector. The usage of platforms such as SOPHiA DDM, that will integrate multiple outputs from different diagnostic tests, will help better diagnose and treat patients like never before.


What are you most proud of in your career?

Being a part of one of Germany’s largest NGS laboratory and focusing on HIV research.


Which scientists, living, dead, or fictional, would you invite to dinner, and why?

Barbara McClintock… I would love to speak with her about her discovery of mobile genetic elements. The understanding of their impact on chromosomal insertions, deletions and translocations was a ground-breaking discovery. Her findings provide insights into the cause of many of the genetic diseases we are exploring today at SOPHiA GENETICS.


What advice do you wish someone had given to you at the start of your career?

 “Focus on the journey, not the destination. Joy is found not in finishing an activity but in doing it.” Greg Anderson.

Registration for the 2018 Festival is free; secure your Festival Pass here to hear more from Anja and the rest of our speaker line-up.


Opinions and views expressed in The Short Read are the interviewee’s and not those of the home institution

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