Pacific Biosciences of California Inc (PACB)

[Paulieme]

Long Amplicon Analysis:
Highly Accurate, Full-length, Phased, Allele-Resolved Gene
Sequences from Multiplexed SMRT® Sequencing Data--- Brett N. Bowman1, Patrick Marks1, N. Lance Hepler1, Kevin Eng1, John Harting1, Takashi Shiina2, Shingo Suzuki2, Swati Ranade1
1.Pacific Biosciences of California, Inc., Menlo Park, United States of America
2.Tokai University School of Medicine, Isehara, Japan-------------- The correct phasing of genetic variations is a key
challenge for many applications of DNA sequencing.
Allele-level resolution is strongly preferred for
histocompatibility sequencing where recombined genes
can exhibit different compatibilities than their parents. In
other contexts, gene complementation can provide
protection if deleterious mutations are found on only one
allele of a gene. These problems are especially
pronounced in immunological domains given the high
levels of genetic diversity and recombination seen in
regions like the Major Histocompatibility Complex. A new
tool for analyzing Single Molecule, Real-Time (SMRT)
Sequencing data – Long Amplicon Analysis (LAA) – can
generate highly accurate, phased and full-length
consensus sequences for multiple genes in a single
sequencing run.
Introduction
Amplicon Analysis Overview
Mixed Long Amplicon Analysis
SMRT® Sequencing
Full-Length HLA Class I
References
Conclusions
Motivation--// (Must see link) https://s3.amazonaws.com/files.pacb.com/pdf/Long_Amplicon_Analysis_Highly_Accurate_Full-length_Phased_Allele_Resolved_Gene_Sequences_from_Multiplexed_SMRT_Sequencing_Data.pdf