Whole Genome Sequencing | NYU Langone Health

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Applied Bioinformatics Laboratories Services Whole Genome Sequencing

Whole Genome Sequencing

The Applied Bioinformatics Laboratories offer high-quality whole genome sequencing (WGS) services. WGS provides the individual’s entire genetic code by sequencing the entire chromosomal DNA of an organism. It is widely used in healthcare and research to identity genetic variants across the whole genome. This allows for identification of rare mutations in different species and for diagnosing genetic disorders in humans.

Request a Whole Genome Sequencing Service

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

  • a sample sheet describing your 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)

You receive the following from us:

  • a comprehensive report
  • BAM files that are de-duplicated, realigned, and recalibrated, which can be used for visual inspection of variants
  • VCF files obtained using different variant callers, such as GATK and LoFreq
  • table of functionally annotated variants annot.all.txt (all annotated variants), annot.coding.txt (coding region variants), and annot.nonsyn.txt (nonsynonymous, frameshift, and splicing variants)
  • a summary combined table that includes information about number of reads, alignment rate, duplicates, and depth of coverage

Additional or Customized Analyses

We also offer the following analyses:

  • somatic mutation analysis using callers like Mutect
  • copy number variation analysis
  • Circos plot of all mutants and other customized plots

Each of these may be subject to an additional charge.

Additional Resources

Below you can find links to computational pipelines that we typically use for our analyses: