A5095887362- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Medical Imaging and Pathology Studies
- Genomics and Chromatin Dynamics
- Congenital heart defects research
With the development of next-generation sequencing (NGS) technologies it became possible to simultaneously analyze millions variants. Despite quality improvement, is generally still required confirm variants before reporting. However, in recent years dominant idea that one could define thresholds for "high quality" which do not require orthogonal validation. that, no works date report concordance between from whole genome and their gold-standard Sanger In this study we analyzed 1756 WGS...
A pseudogene is a non-functional copy of protein-coding gene. Processed pseudogenes, which are created by the reverse transcription mRNA and subsequent integration resulting cDNA into genome, being major class, represent significant challenge in genome analysis due to their high sequence similarity parent genes frequent absence reference genome. This homology can lead errors variant identification, as sequences derived from processed pseudogenes be incorrectly assigned parental genes,...
Abstract With the development of Next-Generation Sequencing (NGS) technologies it became possible to simultaneously analyze millions variants. Despite quality improvement is generally still required confirm variants before reporting. However, in recent years dominant idea that one could define thresholds for “high quality” which do not require orthogonal validation. that, no works date report concordance between from whole genome sequencing and their gold-standard Sanger In this study we...