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View article: SnakeLines: integrated set of computational pipelines for sequencing reads
SnakeLines: integrated set of computational pipelines for sequencing reads Open
With the rapid growth of massively parallel sequencing technologies, still more laboratories are utilising sequenced DNA fragments for genomic analyses. Interpretation of sequencing data is, however, strongly dependent on bioinformatics pr…
View article: WarpSTR: determining tandem repeat lengths using raw nanopore signals
WarpSTR: determining tandem repeat lengths using raw nanopore signals Open
Motivation Short tandem repeats (STRs) are regions of a genome containing many consecutive copies of the same short motif, possibly with small variations. Analysis of STRs has many clinical uses but is limited by technology mainly due to S…
View article: Combination of Expert Guidelines-based and Machine Learning-based Approaches Leads to Superior Accuracy of Automated Prediction of Clinical Effect of Copy Number Variations
Combination of Expert Guidelines-based and Machine Learning-based Approaches Leads to Superior Accuracy of Automated Prediction of Clinical Effect of Copy Number Variations Open
Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation based on predefined criteria to u…
View article: WarpSTR: Determining tandem repeat lengths using raw nanopore signals
WarpSTR: Determining tandem repeat lengths using raw nanopore signals Open
Motivation Short tandem repeats (STRs) are regions of a genome containing many consecutive copies of the same short motif, possibly with small variations. Analysis of STRs has many clinical uses, but is limited by technology mainly due to …
View article: Systematic Genomic Surveillance of SARS-CoV-2 Virus on Illumina Sequencing Platforms in the Slovak Republic—One Year Experience
Systematic Genomic Surveillance of SARS-CoV-2 Virus on Illumina Sequencing Platforms in the Slovak Republic—One Year Experience Open
To explore a genomic pool of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during the pandemic, the Ministry of Health of the Slovak Republic formed a genomics surveillance workgroup, and the Public Health Authority of the S…
View article: Automated prediction of the clinical impact of structural copy number variations
Automated prediction of the clinical impact of structural copy number variations Open
Copy number variants (CNVs) play an important role in many biological processes, including the development of genetic diseases, making them attractive targets for genetic analyses. The interpretation of the effect of these structural varia…
View article: SnakeLines: integrated set of computational pipelines for sequencing reads
SnakeLines: integrated set of computational pipelines for sequencing reads Open
Background: With the rapid growth of massively parallel sequencing technologies, still more laboratories are utilizing sequenced DNA fragments for genomic analyses. Interpretation of sequencing data is, however, strongly dependent on bioin…
View article: Automated prediction of the clinical impact of structural copy number variations
Automated prediction of the clinical impact of structural copy number variations Open
Introduction: Copy number variants (CNVs) play an important role in many biological processes, including the development of genetic diseases, making them attractive targets for genetic analyses. The interpretation of the effect of structur…