Genomize

A new study published in Frontiers in Immunology (February 2026) by Hülya Köse and Akcahan Akalin from Diyarbakır Children's Hospital sheds light on the genetic landscape of Inborn Errors of Immunity (IEI) in southeastern Türkiye, a region with one of the highest consanguinity rates reported in IEI literature (92% of cases). The study investigated the clinical and genetic spectrum of IEI in a highly consanguineous population of 52 patients. Using NGS and the SEQ Platform, the researchers achieved a molecular diagnosis in 63.5% of the cohort, identifying 37 pathogenic or likely pathogenic variants across 23 genes, including rare conditions such as LIG4 deficiency, ADA-SCID, Bloom syndrome, and RIPK1-associated immune dysregulation. The SEQ Platform enabled alignment to the human reference genome (GRCh37/hg19), variant calling and filtering, and annotation through ClinVar, HGMD, ExAC, and gnomAD, alongside in silico pathogenicity predictions. Crucially, genetic confirmation directly influenced clinical management in over 82% of variant-positive cases, guiding decisions on IVIG therapy, hematopoietic stem cell transplantation, targeted immunomodulation, and genetic counseling. This study highlights how effective bioinformatics tools are for improving diagnostic yield and patient outcomes, especially in populations where rare autosomal recessive disorders are highly prevalent. At Genomize, we are dedicated to supporting clinicians and researchers in translating complex sequencing data into precise, actionable clinical insights. 🔗 Read the full open-access article in the comments below! 👇 #Genomize #NGS #Bioinformatics #InbornErrorsOfImmunity #PrecisionMedicine #GeneticDiagnosis #RareDisease #PediatricImmunology

Manual literature reviews are one of the most time-consuming steps in variant interpretation. The SEQ Platform eliminates that bottleneck with the Integrated Real-Time Literature Search. How it accelerates your workflow: - Multi-Layered Evidence: View variant-centric literature (via LitVar2) and gene-centric publications (via PubMed, MedGen, NCBI Gene) for each variant. - Smart Filtering: A dynamic toggle lets you focus solely on preliminary disease and variant-relevant publications. - Mastermind Integration: Instantly view publication counts and direct links to ensure your ACMG classifications are backed by comprehensive evidence. Everything you need to confidently classify variants, all in one view. #Genomize #SEQPlatform #VariantInterpretation #ClinicalGenomics #Bioinformatics #NGS #PubMed #PrecisionMedicine

We successfully concluded our online webinar, “Decoding Germline Complexity In Clinical Practice,” in collaboration with Genique Lifesciences and Chromosome Labs Private Limited. Together, we covered practical approaches to variant interpretation in WES, CNV Analysis, and real-world clinical case studies. It was a great opportunity to engage with the clinical genetics community in India. Thank you to all the registered participants who brought such great questions to the table, and to our speakers and collaborative partners for their invaluable contributions. See you at our next webinar! #Genomize #ClinicalGenetics #Genomics #Bioinformatics #NGS #VariantInterpretation #Webinar

The 36th Annual Meeting of the German Society of Human Genetics has come to a close today! It was a pleasure to connect with many clinicians and researchers over the last three days. We extend our sincere thanks to Congress President Prof. Dr. Juliane Winkelmann and the entire organizing team for this successful event. Thank you to all the participants who visited our booth, attended our satellite talk, or took the time to learn more about the SEQ Platform. We are leaving Munich with meaningful connections and a strong appreciation for the community we are part of. We look forward to continuing our conversations and seeing you at next year’s conference. Vielen Dank! #GfH2026 #HumanGenetics #ClinicalGenetics #PrecisionMedicine #NGS #Bioinformatics #VariantInterpretation

The first day of GfH 2026 is almost behind us, and it has already been a very inspiring start in Munich. Today, our CEO, Dr. Ersen Kavak, took the stage for our satellite talk, “Discrepancies Between Automated ACMG Classifications in Clinical Bioinformatics,” at the Munich Science Congress Center. A sincere thank you to everyone who joined the session and contributed with their insights. Your interest and engagement made the presentation valuable for us. The conference continues until Friday, and we look forward to meeting many more of you. Feel free to visit us at first floor to continue the conversation. #GfH2026 #HumanGenetics #ClinicalGenomics #Bioinformatics #PrecisionMedicine 

GfH starts tomorrow in Munich! On the first day of the conference, our CEO, Dr. Ersen Kavak, will take the stage for our satellite talk: “Discrepancies Between Automated ACMG Classifications in Clinical Bioinformatics” 📍 Audimax Room 🕛 12:00–12:30 In this session, we’ll explore one of the key challenges in clinical variant interpretation and share perspectives on improving consistency and reliability in automated ACMG classification workflows. If you’re attending GfH 2026, we would truly love to see you there. Let’s meet, talk, and exchange thoughts at the session or anytime at our stand at Booth 32. See you in Munich! #GfH2026 #HumanGenetics #ClinicalGenomics #ACMG #Bioinformatics #PrecisionMedicine

On Rare Disease Day, we stand with the more than 300 million people worldwide living with a rare disease and the ongoing search for accurate and timely diagnoses. There are over 6,000 identified rare diseases, characterised by a wide range of conditions and symptoms. Because many rare diseases share features with more common disorders, reaching an accurate diagnosis can be complex and time-consuming. Today is an opportunity to highlight the importance of timely diagnosis, access to appropriate treatment, and social support. It also underlines the need for health systems that address the specific challenges faced by individuals and families affected by rare conditions. As Genomize, we are committed to supporting earlier and more reliable diagnoses through accurate and comprehensive genomic analysis. Increasing awareness, advancing research, and strengthening diagnostic capabilities are key steps toward reducing uncertainty for both patients and clinicians. #RareDiseaseDay #RareDiseases #ClinicalGenomics #Genomics #NGS #PrecisionMedicine #GeneticDiagnosis

We're heading to Munich next week! 🇩🇪 This year, we're thrilled to present a satellite talk at the 36th German Society for Human Genetics Annual Conference. Our CEO, Dr. Ersen Kavak, will be addressing a critical challenge in variant interpretation: "Discrepancies Between Automated ACMG Classifications in Clinical Bioinformatics" 📅 Date: 04 March 2026 🕛 Time: 12:00 - 13:00 📍 Location: Science Congress Center If you're attending GfH2026, we'd love to connect, whether it's after the talk or throughout the conference. Please don't hesitate to drop by and say hello! #GfH2026 #Genomize #HumanGenetics #ClinicalGenomics #Bioinformatics #Genomics #PrecisionMedicine

The SEQ Platform delivers a significantly more comprehensive approach to Copy Number Variant (CNV) analysis! We have expanded our real-time genotype-phenotype database functionality to include CNVs. Most importantly, we have applied this feature retroactively to all your past analyses. With the new CNV Database, you can now: - List previously observed copy number changes across your entire cohort. - Filter CNVs based on customizable overlap thresholds. - Instantly access the corresponding samples for any selected CNV. - View overlapping SNVs and Indels directly within the variant’s genotype column. By providing this functionality, we aim to bring greater confidence and efficiency to your routine variant interpretation. #SEQPlatform #ClinicalGenetics #Genomics #NGS #Bioinformatics #CNV #VariantInterpretation

We’re looking forward to attending the 36th German Society for Human Genetics Annual Conference in Munich! From March 4–6, we’ll be joining the event as one of the sponsors at the Munich Science Congress Center and welcoming visitors at our stand throughout the conference. We’re excited to share how the SEQ Platform supports efficient germline interpretation and enhanced somatic analysis through intelligent analytics and streamlined clinical workflows. We look forward to connecting with fellow geneticists, researchers, and clinicians and exchanging insights on the future of precision genomics. #Genomics #HumanGenetics #PrecisionMedicine #ClinicalGenomics #NGS #Bioinformatics #GfH