X

Quality Statement

Pacific Biosciences is committed to providing high-quality products that meet customer expectations and comply with regulations. We will achieve these goals by adhering to and maintaining an effective quality-management system designed to ensure product quality, performance, and safety.

X

Image Use Agreement

By downloading, copying, or making any use of the images located on this website (“Site”) you acknowledge that you have read and understand, and agree to, the terms of this Image Usage Agreement, as well as the terms provided on the Legal Notices webpage, which together govern your use of the images as provided below. If you do not agree to such terms, do not download, copy or use the images in any way, unless you have written permission signed by an authorized Pacific Biosciences representative.

Subject to the terms of this Agreement and the terms provided on the Legal Notices webpage (to the extent they do not conflict with the terms of this Agreement), you may use the images on the Site solely for (a) editorial use by press and/or industry analysts, (b) in connection with a normal, peer-reviewed, scientific publication, book or presentation, or the like. You may not alter or modify any image, in whole or in part, for any reason. You may not use any image in a manner that misrepresents the associated Pacific Biosciences product, service or technology or any associated characteristics, data, or properties thereof. You also may not use any image in a manner that denotes some representation or warranty (express, implied or statutory) from Pacific Biosciences of the product, service or technology. The rights granted by this Agreement are personal to you and are not transferable by you to another party.

You, and not Pacific Biosciences, are responsible for your use of the images. You acknowledge and agree that any misuse of the images or breach of this Agreement will cause Pacific Biosciences irreparable harm. Pacific Biosciences is either an owner or licensee of the image, and not an agent for the owner. You agree to give Pacific Biosciences a credit line as follows: "Courtesy of Pacific Biosciences of California, Inc., Menlo Park, CA, USA" and also include any other credits or acknowledgments noted by Pacific Biosciences. You must include any copyright notice originally included with the images on all copies.

IMAGES ARE PROVIDED BY Pacific Biosciences ON AN "AS-IS" BASIS. Pacific Biosciences DISCLAIMS ALL REPRESENTATIONS AND WARRANTIES, EXPRESS, IMPLIED OR STATUTORY, INCLUDING, BUT NOT LIMITED TO, NON-INFRINGEMENT, OWNERSHIP, MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE. IN NO EVENT SHALL Pacific Biosciences BE LIABLE FOR ANY DIRECT, INDIRECT, INCIDENTAL, PUNITIVE, OR CONSEQUENTIAL DAMAGES OF ANY KIND WHATSOEVER WITH RESPECT TO THE IMAGES.

You agree that Pacific Biosciences may terminate your access to and use of the images located on the PacificBiosciences.com website at any time and without prior notice, if it considers you to have violated any of the terms of this Image Use Agreement. You agree to indemnify, defend and hold harmless Pacific Biosciences, its officers, directors, employees, agents, licensors, suppliers and any third party information providers to the Site from and against all losses, expenses, damages and costs, including reasonable attorneys' fees, resulting from any violation by you of the terms of this Image Use Agreement or Pacific Biosciences' termination of your access to or use of the Site. Termination will not affect Pacific Biosciences' rights or your obligations which accrued before the termination.

I have read and understand, and agree to, the Image Usage Agreement.

I disagree and would like to return to the Pacific Biosciences home page.

Pacific Biosciences
お問い合わせ

免疫関連疾患における隠れた遺伝性

ヒト医学そして疾患研究における理解は、免疫関連疾患と遺伝性の関連性に新たな視点をもたらしました。ヒト主要組織適合遺伝子複合体(MHC)及びキラー免疫受容体(KIR)は多くの免疫関連疾患に関与しており、高度なシークエンスと大規模なコホート研究に大きな投資がなされてきました。こうした努力にもかかわらず、MHCあるいはKIR内の原因多型のファインマッピングは依然として難しく、免疫疾患をもたらすメカニズムの理解はまだまだ不十分です1

疾患関連研究における複雑な免疫遺伝子の与えるインパクト

免疫サブゲノム領域の遺伝的な複雑性により、多型と免疫疾患を関連づけるのはこれまで困難でした。MHCとキR遺伝子の複雑な領域には大きなコピー数多型(CNV)や高密度化した遺伝子、高頻度な多型アリル、さらには保存された拡張ハプロタイプが含まれます。こうした複雑性により、ショートリードの次世代シークエンサーを用いたde novoアセンブリやアライメントは困難なアプローチでした2

SMRTシークエンスで免疫ゲノム研究にインパクトをもたらす

PacBioの1分子リアルタイム(SMRT)シークエンスはロングリードと均一なゲノムカバレッジ、高いコンセンサス精度をもたらし、包括的かつ高い信頼性で複雑な免疫領域にある多型をフェーズ化します。

特集:KIR遺伝子に代表される複雑な免疫遺伝子座の多型解析

Prall-2017-Improved-Discovery of a full-length KIR transcript in Mauritian cynomolgus macaque
研究者はこれまでによく特徴づけられたCynomolgus macaques集団における曖昧なKIR遺伝子型をロングリードでシークエンス。Mafa-KIRハプロタイプモデルを再定義する9つの新たなアリル多型を発見しました3

SMRTシークエンスが免疫研究をどのようにサポートするか、ぜひお問い合わせください。

 

References

  1. Trowsdale J. and Knight JC., (2013) Major histocompatibility complex genomics and human disease. Annual Review Genomics Human Genetics. 14, 301-323.
  2. Brandt, D. Y. C., et al., (2015) Mapping bias overestimates reference allele frequencies at the HLA genes in the 1000 Genomes Project phase I data. 5(5), 931-941.
  3. Prall, T. M., et al., (2017) Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics doi:10.1007/s00251-017-0977-7.

Selected Resources