Medical genetics

LE CARYOTYPE NORMAL

THE NORMAL KARYOTYPE

ICARE Genetics Case Conference: BRCA1 Variants: Refining Classification on a Continuum (May 2026)

EP 239: What long-read sequencing reveals about Alzheimer’s and ALS with Paul Valdmanis

Invited Session 4 Clinical Variant Interpretation Knowledgebases in Cancer Genomics

Chromatin deregulation, a cancer driver

Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap

Linking Cytosolic Single-Stranded DNA Formation to Fragile X Syndrome Pathology

Genomics of Rare Disease 2026 | Keynote lecture by Wendy Chung, Harvard Medical School, USA

Genomics of Rare Disease 2026 | Keynote lecture by Bob Handsaker, Broad Institute, United States

ESHG Webinar Series Season 2 Episode 4 with Alexandre Reymond

ESHG Webinar Series Season 2 Episode 3 with Lili Milani

Q&A Livestream with Rare Genetics, Inc!

Best practices for testing low level mosaic variants Recommendations from CGC working group

Full Recording of the April 2026 ICARE Genetics Case Conference

Clonal Hematopoiesis vs. Hereditary Cancer: Diagnostic Challenges & Clinical Impact

Rare Disease Day Webinar 2026: Turning Precision Medicine Into Reality

Detection of IGHMYC and a cryptic IGHBCL6 rearrangement refines diagnosis in high grade B-Cell

🎥✨ Martes de Divulgación Científica -10 de marzo 2026- Diagnósticos Moleculares - Enfermedades raras

🎥✨ Scientific Dissemination Tuesday -March 10, 2026- Molecular Diagnostics - Rare Diseases

From Medical Mystery to Gene Therapy: One Family’s Sialidosis Journey

MENDEL LECTURES / Jakub Tolar / 19. 3. 2026

EP 231: From polygenic scores to AI-driven medicine with Andrea Ganna of FIMM

Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity

Perspectivas del uso de transcriptómica espacial y de células única en la clínica

Perspectives on the use of spatial transcriptomics and single-cell in the clinic

EP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska

Full Recording of the March 2026 ICARE Genetics Case Conference

Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

Andrea Maier at ARDD2025: Epigenetic clocks Working group

EP 229: Turning personal tragedy into a movement for preventive genetics with Matthew Goldstein

Inside the Brazilian Rare Genomes Project

EP 228: What genomes reveal about EBV and human disease with Ryan Dhindsa and Caleb Lareau

【City of Stress, Science of Hope: The Power of Genomics in Mental Wellness】

ESHG Webinar Series Season 2 Episode 2 with Amanda Pichini, James R. Bonham and Gulcin Gumus

EP 227: Discovering a new neurodevelopmental syndrome in the non-coding genome with Nicky Whiffin

Diagnostic génétique du LPAC – JAMRF25

Genetic diagnosis of LPAC – JAMRF25

Keynote Presentation: Discovering and Defining the Telomere Biology Disorders

Dr. Mansi Desai Explained HPV, Cancer, Intellectual Disabilities and More

Managing Risk of Gastric Cancer in Patients with Pathogenic Germline Variants in CDH1

ESHG Webinar Series Season 2 Episode 1 with Sarah Norris

NIPT Beyond the Basics: Screening for Single-Gene Conditions

Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing