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Canvas SPW: Calling De Novo Copy Number Variants In Pedigrees [article]

Sergii Ivakhno, Eric Roller, Camilla Colombo, Philip Tedder, Anthony J. Cox
2017 bioRxiv   pre-print
Results: We have developed a new tool, Canvas SPW, for the identification of inherited and de novo copy number variants from pedigree sequencing data.  ...  Motivation: Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic  ...  and de novo variant calling in pedigrees.  ... 
doi:10.1101/121939 fatcat:aps34jd5nraebpcyrvpyovfuba

Copy Number Variation: Methods and Clinical Applications

Ondrej Pös, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, Tomas Szemes
2021 Applied Sciences  
Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases  ...  In recent decades, researchers developed a wide variety of cytogenetic and molecular methods with different detection capabilities to detect clinically relevant CNVs.  ...  Mac OS X Linux Free software licence [59] Canvas SPW Canvas SPW (Small Pedigree Workflow) is a tool for CNV calling that serves to identify germline and de novo CNVs from pedigree sequencing data.  ... 
doi:10.3390/app11020819 fatcat:sqgril5tvrhprjf6bdbih2osyy