Bioinformatics Specialist
About this opportunity
At Roche you can show up as yourself, embraced for the unique qualities you bring. Our culture encourages personal expression, open dialogue, and genuine connections, where you are valued, accepted and respected for who you are, allowing you to thrive both personally and professionally. This is how we aim to prevent, stop and cure diseases and ensure everyone has access to healthcare today and for generations to come. Join Roche, where every voice matters.
The Position
We are looking for a Bioinformatics Specialist to join the Bioinformatics team at Roche Diagnostics Turkiye and play an active role in the development, implementation, and technical support of bioinformatics solutions used in molecular diagnostics.
In this role, you will support the effective use of Roche sequencing solutions, including Axelios, KAPA, Avenio, and NAVIFY® Sequencing Software, across university hospitals, public hospitals, and private laboratories. You will contribute to the development, optimization, and validation of bioinformatics workflows that transform complex genomic data into meaningful clinical insights. Working closely with R&D, Information Technology (IT), Global Support, and Field teams, you will help deliver reliable, high-quality bioinformatics solutions to our customers.
Responsibilities:
Bioinformatics Analysis and Workflow Development
• Develop, optimize, and validate bioinformatics workflows for Roche sequencing solutions.
• Evaluate and continuously improve germline and somatic variant analysis pipelines.
• Support the accuracy, reliability, and reproducibility of bioinformatics analyses for clinical applications.
Technical Support and Customer Solutions
• Support bioinformatics analysis activities and technical assistance for Roche sequencing solutions in customer laboratories.
• Collaborate with global teams to investigate and resolve technical issues.
• Deliver technical consultation and training related to bioinformatics analysis workflows.
Data Analysis and Quality Assessment
• Evaluate NGS quality metrics to ensure reliable analytical performance.
• Analyze large-scale genomic datasets supporting molecular diagnostic applications.
• Prepare technical documentation and evaluate analysis results from scientific and technical perspectives.
Continuous Improvement and Innovation
• Evaluate emerging bioinformatics methodologies, algorithms, and open-source tools for potential integration into Roche solutions.
• Participate in the validation, documentation, and continuous improvement of bioinformatics workflows.
• Collaborate with global teams to support future product development initiatives.
Qualifications:
• Bachelor's degree in Bioinformatics, Molecular Biology and Genetics, Biology, Biomedical Engineering, Computer Science/Engineering, or a related discipline.
• Minimum 3 years of experience in NGS data analysis.
• Experience with germline and/or somatic variant analysis workflows.
• Proficiency in Python and preferably knowledge of R.
• Experience working in Linux environments and Bash scripting.
• Experience with Docker or similar container technologies.
• Experience running bioinformatics workflows in HPC (High Performance Computing) environments.
• Experience using Git or similar version control systems.
• Experience developing or maintaining NGS bioinformatics pipelines.
Experience with one or more of the following open-source bioinformatics tools is preferred:
BWA, GATK, DeepVariant, Fastp, CNVkit, STAR / STAR-Fusion, MSIsensor2, fgbio
• Familiarity with workflow management systems such as Nextflow, Snakemake, or similar platforms is considered an asset.
• Ability to interpret NGS quality metrics, including coverage, on-target read rate, insert size, and mapping quality.
• Ability to evaluate variant analysis results and interpret bioinformatics reports.
• Strong analytical thinking and problem-solving skills.
• Excellent communication skills with the ability to explain technical concepts to clinicians and laboratory professionals.
• Ability to collaborate effectively within cross-functional teams.
• Minimum B2 level English proficiency to follow scientific literature, product updates, and technical training.
• Valid driver's license and willingness to travel domestically for customer support.
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Roche Diagnostik Türkiye bünyesinde görev alacak, moleküler teşhis alanında kullanılan biyoinformatik çözümlerinin geliştirilmesi, uygulanması ve teknik destek süreçlerinde aktif rol alacak Biyoinformatik ekibimize katılacak bir takım arkadaşı arıyoruz.
Bu rolde Axelios, KAPA, Avenio ve NAVIFY® Sequencing Software çözümlerimizin üniversite hastaneleri, kamu hastaneleri ve özel laboratuvarlarda etkin kullanımını destekleyecek; biyolojik verileri klinik açıdan anlamlı sonuçlara dönüştüren analiz iş akışlarının geliştirilmesi, optimizasyonu ve doğrulanmasına katkı sağlayacaksınız.
Ar-Ge, Bilgi Teknolojileri (IT), Global Destek ve saha ekipleriyle yakın iş birliği içerisinde çalışarak yüksek kaliteli biyoinformatik çözümlerinin müşterilerimize güvenilir şekilde sunulmasına destek olacaksınız.
İş Tanımı:
Biyoinformatik Çözümleri ve Sistem Tasarımı: KAPA, Axelios, Avenio panellerimiz ve geniş ölçekli genomik analizlere güç veren dijital altyapıyı inşa etmek. Büyük biyolojik veri kümelerinin verimli bir şekilde işlenmesini sağlayan veri tabanı yapıları ve API'ler tasarlamak/dağıtmak.
İş Akışları (Pipelines) ve Algoritma Yönetimi: KAPA Hedef Zenginleştirme ve Avenio verilerini kullanarak germline ve somatik mutasyon araştırmaları için iş akışlarını uygulamak ve optimize etmek. Fastp, BWA mem, GATK4, DeepVariant, VarDict, VarScan2, MSIsensor2, CNVkit ve STAR/STAR-Fusion, XOOS gibi araçları kullanarak klinik tanılara yönelik algoritmaların Ar-Ge'sine öncülük etmek.
Bulut Entegrasyonu ve Veri Görselleştirme: Roche'un SNV, Indel, CNV, MSI ve Füzyon tespiti analizlerini ilgili platformlar üzerinde kurmak, yürütmek ve desteklemek. Bilim insanlarının "omik" verileri keşfetmelerine olanak tanıyan görselleştirme araçları ve web uygulamaları oluşturmak/kullanmak.
Kullanıcı Deneyimi ve Saha Desteği: Roche teknik bültenlerine (white-paper) dayalı dizileme analizlerini, kullanıcı dostu bir Grafik Kullanıcı Arayüzü (GUI) ile sahadaki paydaşların (müşteriler, laboratuvar uzmanları) verimli kullanımına sunmak.
İnovasyon ve Teknolojik Gelişim: Fgbio araçları kullanılarak UMI dizilerinin çıkarılması, gruplandırılması ve konsensüs dizilerinin hesaplanması gibi gelişmekte olan hesaplamalı biyoloji teknolojilerini araştırmak ve sistemlerimize entegre etmek.
Aranan Nitelikler:
Eğitim: Üniversitelerin Biyoinformatik, Biyoloji, Moleküler Biyoloji ve Genetik, Biyomedikal Mühendisliği, Bilgisayar Mühendisliği veya ilgili bölümlerinden mezun.
Deneyim: Sekanslama ve Yeni Nesil Dizileme (NGS) alanında en az 3 yıllık çalışma deneyimine sahip.
Gelişmiş Teknik Uzmanlık: Python ve R dillerinde oldukça yetkin; nesne yönelimli programlama, Linux sistemleri ve yüksek performanslı hesaplama (HPC) ortamlarının yönetiminde derin uzmanlığa sahip.
Konteyner, Sanallaştırma ve Yazılım: Varyant çağırma (DeepVariant) veya bilinen varyantlarla doğruluk kıyaslaması (hap.py vb.) gibi analiz araçlarını çalıştırabilmek adına Docker gibi platformlar üzerinde tecrübeli. Modern frameworkler (React, Angular veya Vue vb.) kullanarak ön uç (frontend) uygulamaları geliştirme yeteneği.
Yetkinlikler: Hedef zenginleştirme deneylerinin performansını değerlendirmek için "Fold 80 base penalty", hedef üzeri okuma oranı ve medyan eklenti boyutu gibi metrikleri analiz edebilme. Karmaşık teknik ve algoritmik kavramları hekimlere ve laboratuvar sorumlularına aktarabilecek gelişmiş sunum ve iletişim yeteneği. Ar-Ge, IT ve Kalite ekipleriyle matris yapıda çalışabilme.
Dil Bilgisi: Global literatürü, ürün güncellemelerini ve eğitimleri takip edebilecek düzeyde iyi derecede minimum B2 İngilizce bilgisi.
Seyahat: Aktif araç kullanabilen ve bölgesindeki seyahat engeli bulunmayan (Saha desteği için).
Who we are
A healthier future drives us to innovate. Together, more than 100’000 employees across the globe are dedicated to advance science, ensuring everyone has access to healthcare today and for generations to come. Our efforts result in more than 26 million people treated with our medicines and over 30 billion tests conducted using our Diagnostics products. We empower each other to explore new possibilities, foster creativity, and keep our ambitions high, so we can deliver life-changing healthcare solutions that make a global impact.
Let’s build a healthier future, together.
Roche is an Equal Opportunity Employer.
Job details
How this role compares
Computed from every other active Biostatistics & Data Science role in our database, not just this employer's listings.
We currently track 137 comparable Biostatistics & Data Science roles across 22 biopharma companies.
Salary context
46 of 137 peers report a salary range (USD, annualized)
Peers share this role's job function. This posting doesn't list a seniority level, so peers aren't narrowed by seniority either -- the range below may span more levels than usual.
Where these roles are based
Top locations among the 137 comparable roles
+ 10 more countries
Seniority mix
105 of 137 peers have a known seniority level
Therapeutic area mix
14 of 137 peers have a known therapeutic area; the rest are genuinely unlabeled, not hidden
Similar opportunities
The closest matches from our peer group, ranked by how similar they are, not how well you'd qualify for them -- treat this as market context, not a guaranteed shortlist; a weak match is labeled as one below.
Matched on job function only -- seniority, specialty, and location weren't confirmed as aligned.
Open in 2 locations
Matched on job function only -- seniority, specialty, and location weren't confirmed as aligned.
Matched on job function only -- seniority, specialty, and location weren't confirmed as aligned.
Matched on job function only -- seniority, specialty, and location weren't confirmed as aligned.
Matched on job function only -- seniority, specialty, and location weren't confirmed as aligned.
Matched on job function only -- seniority, specialty, and location weren't confirmed as aligned.
How we calculate "similar"
No black box, no LLM guesswork: a deterministic score built from four normalized attributes. Here's this role's own peer group at different match levels, so you can see the mechanism, not just the result.
Every comparison starts from the same 100-point budget: 25 for working in the same function, 40 for the same therapeutic area, 20 for the same or adjacent seniority, 15 for the same country. A dimension we can't confirm on both sides contributes nothing, never a guess, never a free pass.
0 points, never a partial guess. A role we know almost nothing about beyond its function bottoms out at 25%; it never inflates to 100% just because there's little to compare against. Seniority uses a defined ladder (Associate → Manager → Associate Director → Senior → Principal → Director → Senior Director → Executive/VP) so "Director" and "Senior Director" count as adjacent, but "Director" and "Executive/VP" do not.