Some next generation sequencing (NGS) analyses are “frequently requested”, for these established and commonly utilized software are utilized (for example, see Table below). Some requests are “routinely-unique”, for these we also use, open source software which are peer-reviewed and published in PubMed; when there is a need to develop new workflows, the R+D is performed and new workflows are developed and utilized (for example, NET-seq, RIBO-seq). Many of the workflows utilize snakemake/nextflow frameworks. All datasets for the projects undergo quality control assessments.

Table below shows some frequently requested NGS analyses.

WorkflowsOutcomesSoftware utilized
mRNA-seq,
microRNA-seq
QC, gene expression, gene differential expressionSTAR, HTSeq-count, DEseq2
Single-cell RNA-seqQC, identify highly variable genes, marker identification, cluster annotation, trajectory inference, composition analysis, differential analysisSTAR, Cell Ranger, Loupe Browser, Seurat
Exome-seq,
Genome-seq,
Targeted re-sequencing
QC, germline mutation profiling, somatic mutational profilingBWA mem, GATK4 (germline), GATK4 Mutect2 (somatic)
ChIP-seqQC, chIP-seq peak-calling and differential analysisBowtie2, MACS2, HOMER, deepTools, ChIPpeakAnno
ATAC-seqQC, ATAC-seq peak-calling and differential analysisBowtie2, MACS2, HOMER, deepTools
Methyl-seqQC, bisulfite-sequencing to characterize the methylome (hyper methylated or hypo-methylated regions of the genome)Bowtie2, Bismark, Metilene