ESHG - European Human Genetics Conference

We’re excited to be attending the annual European Society Human Genetics Meeting (ESHG)! 

Meet us at booth 334 to grab a coffee and gain insights of CENTOGENE´s Single-Step Multiomics Solutions now with RNA Sequencing.

You can also book e demo to experience CentoCloud, which is one of the world´s few CE-marked IVD commercialized software for genomic diagnostic enabling analysis, interpretation, and quality reporting, no matter where you are located.

Stop by our booth to discuss how we can collaborate to ensure the most safe and accessible solutions for our patients. Connect with our Sales Team experts: Alexandros Kouskoukis, Martin Shumanov, Tanya Slavova, Rifat Misirliouglu, Eduard Garcia and Holger Stephan.

Poster Presentations

• "Genetic, Biochemical and Clinical Properties of GLA p.Asp313Tyr Variant in a Large German Cohort", Presented by Jorge Pinto Basto, on June 2, from 15:45-16:45
• "DNAJC17 Biallelic Variants Cause Cerebellar Hypoplasia and Microcephaly – A Novel Gene-Disease Relationship", Presented by Aida Bertoli, on June 2, from 15:45-16:45
• "Application of the ClinGen Framework for Gene-Disease Relationship Evaluation in Prenatal Genetic Testing", Presented by Alejandra Reyes , on June 3, from 13:00-14:00 
• "A ML-based Recommender System for Accelerated Diagnostics in Rare Hereditary Diseases Using Next-Generation Sequencing Data", Presented by Krishna Kandaswamy , on June 3, from 13:00-14:00
• "Exome and Genome Sequencing as Time Effective Methods for Prenatal Diagnosis: Overview of 679 Patients", Presented by Catarina Pereira, on June 3, from 13:00-14:00 
• "The Clinical Genome: Validation Data Beyond Clinical Exome", Presented by Kornelia Tripolszki, on June 3, from 15:45-16:45  
• "Novel Biallelic Missense Variants In LSR Supporting Cause of Pediatric Cholestasis", Presented by Carolin Meier , on June 3, from 15:45-16:45
• "The Cell Division Cycle Protein 20 (CDC20) Gene as a Candidate Gene for Autosomal Recessive Syndromic Microcephaly", Presented by Daniel Polla, on June 2, from 13:00-14:00
• "Incidental Detection of Acquired Cryptic Chromosomal Rearrangements (CCRs) in Patients Who Underwent Germline Genomic Testing", Presented by Moneeb Othman, on June 3, from 13:00-14:00
• "Detection of Novel Homozygous Intronic Variant in the CFTR Gene in Families With Severe Cystic Fibrosis", Presented by Boodor Al-Kawlani (e-Poster)
• "Single Mitochondrial DNA Deletions in the NGS Era", Presented by Lígia Almeida (e-Poster)

We are excited to see you in Berlin!