Exome Sequencing | NYU Langone Health

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Applied Bioinformatics Laboratories Services Exome Sequencing

Exome Sequencing

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: