The experts at the Applied Bioinformatics Laboratories provide exome sequencing services. DNA sequencing of the protein-coding regions in a genome or other targeted regions is used to identify single-nucleotide variants, insertions, deletions, copy-number, and structural alterations.

Request an Exome Sequencing Service

To request this service from us, please provide the following:

• a sample sheet with the corresponding conditions for the samples
• the organism(s) of the particular study
• the link to the generated FASTQ data (obtained from NYU Langone’s Genome Technology Center or another sequencing facility)
• a BED file listing the target regions and probes

You receive the following from us:

• a comprehensive report
• quality assessment (read quality, alignment, and coverage statistics)
• aligned, sorted, and recalibrated BAM files
• high-confidence mutation and/or SNP calls, raw and after filtering and annotation
• low-frequency mutations (in cancer samples)
• insertions and deletions
• annotated table containing all variants

Additional or Customized Analyses

We also provide the following analyses:

• pathway enrichment analysis
• copy number variation analysis
• customized plots

 Each of these may be subject to an additional charge.

Additional Resources

Below is a link to a computational pipeline that we typically use for our analyses:

• Seq-N-Slide pipeline (wes route)