デンマークから150のゲノムを人口参照として配列化およびde novoアセンブリ

Lasse Maretty¹, Jacob Malte Jensen^2,3, Bent Petersen⁴

¹Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark.

Nature

|July 27, 2017

まとめ

高範囲の配列解析は優れたデノボゲノムアセンブリを可能にし,広範な構造的変異を明らかにします. これは遺伝子変異の研究と精密医療の取り組みを進めています

科学分野:

ゲノミクス
バイオ情報学
人間の遺伝子

背景:

短読マッピングやローカルアセンブリなどの遺伝子変異を特定する現在の方法は限られています
これらのアプローチは複雑なゲノム領域の構造的変異と変異をしばしば見逃します.
大規模な de novo ゲノムアセンブリは総合的な遺伝子解析に不可欠です

研究の目的:

マートペアライブラリを使用して高品質のde novoゲノムアセンブリを構築する可能性を実証する.
新しい挿入を含む構造変数の包括的なカタログを特定する.
複雑な特徴や病気の関連マッピングの研究の力を高める.

主な方法:

マットペアライブラリで 20キロベースまでの高カバーシーケンスを利用した.
ゲノム・デンマーク・プロジェクトから150個 (50組) の de novo アセンブリを行いました.
長読シーケンシング技術との組み立て品質の比較

主要な成果:

高価な長読法に匹敵する品質の de novo アセンブリを達成した.
数多くの新しい挿入を含む構造的変異の豊富なセットを特定しました
完全に解消された主要な組織適合性複合体ハプロタイプ100種とY染色体の重要な部分を解消した.

結論:

拡張されたマートペアライブラリによる高カバーシーケンシングは,デノボゲノムアセンブリに有効です.
生成された変数カタログは,アソシエーションマッピング信号の解読を改善します.
この研究は,精密医療のイニシアチブを支援する貴重な地域参照ゲノムを提供します.

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