Research Focuses and Tools

Bioinformatics Whole Genome/ Whole Exome sequencing, Rapid Whole Exome sequencing (rWES), Gene panels and/ or regions of interest Variant Calling (SNVs, CNVs, SVs, Indels detection) Variant annotation Interpretation of variants Generation of linkage maps Pedigree-based analysis IBD modeling Analysis of unrelatedness RNA sequencing Transcriptome analysis Iso-Seq analysis Single-Cell RNA sequencing Differential expression Alternative splicing Long […]