German M. Demidov

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

Phenome-wide association of multiallelic copy number variation in 422,170 UK Biobank individuals reveals novel genetic loci associated with disease

This paper identifies novel associations between multiallelic copy number variations and disease traits using UK Biobank data, highlighting potential causal variants and mechanisms.

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

A Heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy

This study identifies a heterozygous 9q34 deletion involving SPTAN1 as a cause of distal myopathy, showing age-dependent effects and highlighting CNV detection in exome sequencing for diagnosis.

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

ClinCNV: multi-sample germline CNV detection in NGS data

ClinCNV detects germline CNVs in NGS data using multi-sample normalization and an algorithm combining circular binary segmentation and Hidden Markov models.

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

The paper identifies two independent asthma-associated loci in the HLA region using exome-wide CNV analysis in UK Biobank, highlighting challenges with CNV detection in complex genomic regions.

Efficient and Flexible Integration of Variant Characteristics in Rare Variant Association Studies Using Integrated Nested Laplace Approximation

The paper introduces BATI, a Bayesian rare variant association test that outperforms existing methods in detecting rare variants associated with complex diseases, especially when genetic variation explains little phenotypic variance.

Epigenetic aging of classical monocytes from healthy individuals

This study characterizes epigenetic aging in human classical monocytes, identifying age-associated DNA methylation changes and their links to gene expression and disease associations.

ClinCNV: novel method for allele-specific somatic copy-number alterations detection

ClinCNV detects allele-specific somatic copy-number alterations in NGS data using a statistical approach, showing performance on WES and TPS cohorts.