Full archive

SNP calling from nanopore transcriptome sequencing data

Cardiomyopathies — large variant detection on gene panels

Rare disease undiagnosed after genome sequencing

Balanced structural variation of the human genome

Missense variant interpretation — inborn errors of immunity

COL4A3/A4/A5 - Alport spectrum (hereditary glomerular basement membrane disorders)

Cancer detection from cell-free DNA (liquid biopsy)

Personal genomics and diploid reference

Developmental and epileptic encephalopathy in adults

KCNQ1 - Congenital long QT syndrome

Automated variant interpretation (ACMG classification)

B cell non-Hodgkin lymphoma

Variant interpretation — monogenic epilepsy

Automated genetic variant classification by LLM following ACMG/AMP/ClinGen

Unified structural variant (SV) detection in short-read WGS

Clinical AI / LLMs in medicine

Proteogenomic annotation

Variant classification — impact of ClinGen VCEP criteria specifications on diagnostic interpretation

Noncoding variant interpretation / transcriptional regulation

Splicing variants (deep intronic)

Benchmark of STR and homopolymer detection in clinical sequencing — real mutation rates in a four-generation pedigree

Rare diseases — diagnosis by agentic AI system