Katrin Õunap

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

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.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity

The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.

A comprehensive framework for the interpretation of TTN missense variants

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

Monte Carlo Simulation Analysis of Variant Burden Prompts Potential Oligogenic Interactions

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.

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

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.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

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.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

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.

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

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

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

Low-coverage genome sequencing for the detection of clinically relevant copy-number and mtDNA variants

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.

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

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.

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

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

Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

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

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

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

Identifying long indels in exome sequencing data of patients with intellectual disability

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.