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View Full Version : Long Read Pacific Biosciences Whole Genome Pilot



FGC Corp
01-28-2019, 11:26 PM
A customer expressed interest in this product, so we are starting a pilot.
Contact:
support [at] fullgenomes [dot] com if you are interested:

Description:

From Pacific Biosciences:


Generate exceptional de novo assemblies

Single Molecule, Real-Time (SMRT) Sequencing delivers the read lengths, uniform coverage, and the highest consensus accuracy required to access the complete spectrum of sequence variant types. From single nucleotides to complex structural variants, the PacBio Systems provide direct variant-phasing information through multi-gene regions.


Single molecule High-Fidelity (HiFi) Sequencing with >10 kb libraries

Recent improvements in sequencing chemistry and instrument performance combine to create a new PacBio data type, Single Molecule High-Fidelity reads (HiFi reads). Increased read length and improvement in library construction enables average read lengths of 10-20 kb with average sequence identity greater than 99% from raw single molecule reads. The resulting reads have the accuracy comparable to short read NGS but with 50-100 times longer read length.

pmokeefe
01-29-2019, 07:33 PM
This page on the Pacbio website talks about the Structural Variation analysis applications. https://www.pacb.com/applications/whole-genome-sequencing/structural-variation/
Using the calculator linked from that page with 10x coverage yielded:
Estimated Performance*

Structural variants (≥50 bp) discovered 18,468
Heterozygous variant sensitivity 87%
Homozygous variant sensitivity 99%
False discovery rate 5%
What coverage level do you expect to offer with your test?