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Whole Genome Sequencing

Service Description

Sample Requirements:

  • MBCF optimal input : >200ng
  • Volume & amount : 10ul-30ul 

Analytical Goals:

  • Genome wide variant calling
  • High-resolution copy number variation

Other Information:

  • Standard services range from 30X coverage for germline analysis to 100X for somatic variant calling
  • PCR-free library prep available upon request

Recommended Bioinformatics Pipeline: 

Low Coverage Whole Genome Sequencing for Copy Number Analysis

Example Method Description 

Library Preparation and Sequencing

gDNA was fragmented to [Xbp] on a Covaris R230 instrument according to manufacturer’s protocol. Libraries were prepared using IDT xGen DNA library reagents on a Beckman Coulter Biomek i7 liquid handling platform from approximately [Xng] of DNA according to manufacturer’s protocol with 14 cycles of PCR amplification. Finished libraries were quantified by Qubit fluorometer and fragment size distribution was evaluated by Agilent TapeStation 4200. Library pools were further evaluated for quality and balance with shallow sequencing on an Illumina MiSeq. Subsequently, libraries were sequenced targeting a depth of [X] genome coverage on an Illumina NovaSeq X Plus with paired-end 150bp reads by the Molecular Biology Core Facilities at Dana-Farber Cancer Institute.

 

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