High-resolution human genome structure by single-molecule analysis

被引：131

作者：

Teague, Brian ^{[1
,2
]}

Waterman, Michael S. ^{[3
]}

Goldstein, Steven ^{[1
,2
]}

Potamousis, Konstantinos ^{[1
,2
]}

Zhou, Shiguo ^{[1
,2
]}

Reslewic, Susan ^{[1
,2
]}

Sarkar, Deepayan ^{[4
]}

Valouev, Anton ^{[3
]}

Churas, Christopher ^{[1
,2
]}

Kidd, Jeffrey M. ^{[5
]}

Kohn, Scott ^{[1
,2
]}

Runnheim, Rodney ^{[1
,2
]}

Lamers, Casey ^{[1
,2
]}

Forrest, Dan ^{[1
,2
]}

Newton, Michael A. ^{[4
,6
]}

Eichler, Evan E. ^{[5
]}

Kent-First, Marijo ^{[7
]}

Surti, Urvashi ^{[8
]}

Livny, Miron ^{[9
]}

Schwartz, David C. ^{[1
,2
]}

机构：

[1] Univ Wisconsin, Dept Chem, Lab Mol & Computat Genom, Genet Lab, Madison, WI 53706 USA

[2] Univ Wisconsin, Ctr Biotechnol, Madison, WI 53706 USA

[3] Univ So Calif, Dept Biol Sci, Los Angeles, CA 90089 USA

[4] Univ Wisconsin, Dept Stat, Madison, WI 53706 USA

[5] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[6] Univ Wisconsin, Dept Biostat & Med Informat, Madison, WI 53706 USA

[7] Mississippi State Univ, Dept Biol Sci, Dept Anim Sci, Mississippi State, MS 39762 USA

[8] Univ Pittsburgh, Dept Pathol, Pittsburgh, PA 15213 USA

[9] Univ Wisconsin, Dept Comp Sci, Madison, WI 53706 USA

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2010年 / 107卷 / 24期

基金：

美国国家科学基金会; 美国国家卫生研究院;

关键词：

structural variation; copy number variation; optical mapping; single-molecule genomics; genome assembly; COPY-NUMBER VARIATION; ORDERED RESTRICTION MAPS; SEGMENTAL DUPLICATIONS; OPTICAL MAP; SEQUENCE; SYSTEM; POLYMORPHISM; NANOSLITS;

D O I：

10.1073/pnas.0914638107

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Variation in genome structure is an important source of human genetic polymorphism: It affects a large proportion of the genome and has a variety of phenotypic consequences relevant to health and disease. In spite of this, human genome structure variation is incompletely characterized due to a lack of approaches for discovering a broad range of structural variants in a global, comprehensive fashion. We addressed this gap with Optical Mapping, a high-throughput, high-resolution single-molecule system for studying genome structure. We used Optical Mapping to create genome-wide restriction maps of a complete hydatidiform mole and three lymphoblast-derived cell lines, and we validated the approach by demonstrating a strong concordance with existing methods. We also describe thousands of new variants with sizes ranging from kb to Mb.

引用

页码：10848 / 10853

页数：6

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