Sander Pajusalu

The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

The paper uses Monte Carlo simulations on summary-level allele counts to detect pathway-level variant burden enrichment in neuromuscular disease, identifying potential oligogenic interactions.

The paper evaluates a genetic risk-based breast cancer screening model in younger women, showing its feasibility, clinical utility, and acceptability.

The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.

This study evaluates if low-coverage genome sequencing can detect clinically relevant copy-number and mtDNA variants, finding that 2x coverage is sufficient for most cases.

This study identifies a congenital disorder of glycosylation caused by a missense variant in the second starting methionine of syntaxin-5, leading to loss of the short isoform and multisystem disease.

GEM, an AI-based tool, ranks causal genes highly for rare genetic diseases, improving diagnostic efficiency and reducing manual effort.

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.

This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.

The paper evaluates long indel detection in exome sequencing data from intellectual disability patients, identifying three pathogenic indels and highlighting the importance of accurate variant calling.