Compass Showcases Genomic Analysis Solutions at the 48th Annual Meeting of the Japanese Society for Pediatric Genetics
Nagoya, Japan — March 6–7, 2026
The 48th Annual Meeting of the Japanese Society for Pediatric Genetics (第48回日本小児遺伝学会学術集会) took place on March 6–7, 2026, at Okaya Koki Nagoya Public Hall (岡谷鋼機名古屋公会堂 / Okaya Koki Nagoya Public Hall) in Nagoya, Japan. The meeting brought together clinicians, researchers, and genetics professionals from across Japan to exchange ideas and discuss the latest advances in pediatric genetics, genomic diagnostics, and rare disease research.
At this year’s meeting, Compass Bioinformatics (Compass 株式会社) joined the conversation through a sponsored luncheon seminar, a hands-on workshop on whole exome sequencing (WES) variant interpretation, and an exhibition booth (#13) featuring its genomic analysis platform InheriNext.
Across the two-day event, discussions centered on how genomic sequencing technologies and bioinformatics platforms are accelerating discoveries in rare disease diagnosis and helping translate complex genomic data into actionable clinical insights.
Compass Booth Showcases Genomic Variant Interpretation Platform
Throughout the conference, the Compass booth (#13, 3rd Floor) welcomed clinicians, researchers, and genetics professionals eager to learn more about InheriNext, Compass’s genomic analysis support platform.
Visitors explored how InheriNext helps streamline variant interpretation workflows, integrate key genomic databases, and support more efficient clinical genomics analysis. The conversations reflected a growing demand for practical tools that can help bridge the gap between high-throughput sequencing data and real-world clinical decision making.
The strong engagement throughout the meeting highlighted the momentum building around bioinformatics solutions that empower clinicians to unlock the full value of genomic data.
Seminar: Bridging Genomic Research and Clinical Diagnostics for Rare Diseases
Seminar:
「希少・難病ゲノム診断の高度化と普及に向けて ― 研究解析と臨床検査をつなぐ実践 ―」
Advancing and Expanding Genomic Diagnostics for Rare and Intractable Diseases — Bridging Research Analysis and Clinical Testing
The March 6 luncheon seminar drew over 80 attendees, reflecting strong interest in how genomic technologies are reshaping rare disease diagnostics.
The session was chaired by Dr. Toshiyuki Yamamoto (山本俊至 / Toshiyuki Yamamoto) from the Department of Genome Medicine, Tokyo Women’s Medical University Graduate School of Medicine (東京女子医科大学大学院 医学研究科 先端生命医科学系専攻 遺伝子医学分野 / ゲノム診療科).
Featured speaker Dr. Tadashi Kaname (要匡 / Tadashi Kaname) from the Department of Genome Medicine Research, National Center for Child Health and Development (国立成育医療研究センター ゲノム医療研究部) presented:
“Recent Developments in Comprehensive Genomic Analysis: Bench and Bedside (最近の網羅的ゲノム解析界隈：Bench and Bedside)”
Dr. Kaname’s talk provided an engaging overview of the rapidly evolving landscape of comprehensive genomic sequencing, highlighting how insights from research-scale genomic analysis are increasingly informing clinical diagnostic workflows.
The discussion emphasized the importance of improving genomic data interpretation, integrating bioinformatics tools, and expanding access to genomic testing for patients with rare and genetic diseases.
Hands-on Workshop: Practical Introduction to WES Variant Interpretation Using InheriNext
On March 7, Compass hosted a hands-on training workshop focused on variant interpretation using Whole Exome Sequencing (WES) with InheriNext.
「全エクソーム解析を用いたバリアント解釈入門 ― InheriNext を活用した実践型ハンズオンセミナー（初級編）―」
Introduction to Variant Interpretation Using Whole Exome Sequencing (WES): A Practical Hands-on Seminar with InheriNext (Beginner Level)
The workshop was coordinated by:
- Dr. Hideto Inagaki (稲垣秀人 / Hideto Inagaki) — Department of Molecular Genetics, Research Center for Medical Sciences, Fujita Health University (藤田医科大学 医科学研究センター 分子遺伝学研究部門)
- Dr. Sho Mariya (真里谷奨 / Sho Mariya) — Division of Clinical Genetics, Sapporo Medical University Hospital (札幌医科大学附属病院 遺伝子診療科)
The program was supervised by Dr. Hiroki Kurahashi (倉橋浩樹 / Hiroki Kurahashi) of Fujita Health University.
With full enrollment of 30 participants, the interactive session walked attendees through the practical workflow of whole exome sequencing analysis, using simulated pediatric trio datasets (VCF files).
Participants worked through key steps in genomic variant interpretation, including:
- interpreting VCF (Variant Call Format) data
- variant annotation and filtering using population frequency databases
- evaluating functional prediction scores and clinical variant databases
- applying ACMG/AMP variant classification guidelines
- generating clinical variant interpretation reports
Using InheriNext, attendees gained hands-on experience identifying and prioritizing candidate variants associated with pediatric genetic disorders, demonstrating how bioinformatics platforms can make complex genomic analyses more accessible for clinical teams.
Driving the Future of Clinical Genomics
Compass Bioinformatics remains committed to advancing genomic medicine, rare disease diagnosis, and clinical bioinformatics tools that help translate genomic data into meaningful clinical insights.
By collaborating with clinicians, researchers, and genetics professionals, Compass continues to develop solutions that support faster, more accurate genomic variant interpretation, helping bring the promise of precision medicine closer to everyday clinical practice.
Never Miss What Matters: 98.6% Sensitivity to Find the Causative Variant.