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Discovery and interpretation of gene...

Boston College.

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Discovery and interpretation of genetic variation with next-generation sequencing technologies.

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	Discovery and interpretation of genetic variation with next-generation sequencing technologies./
作者:	Quinlan, Aaron Ryan.
面頁冊數:	212 p.
附註:	Adviser: Gabor T. Marth.
Contained By:	Dissertation Abstracts International69-05B.
標題:	Biology, Bioinformatics. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoeng/servlet/advanced?query=3310349
ISBN:	9780549612926

Discovery and interpretation of genetic variation with next-generation sequencing technologies.
Quinlan, Aaron Ryan.

Discovery and interpretation of genetic variation with next-generation sequencing technologies. - 212 p.

Adviser: Gabor T. Marth.

Thesis (Ph.D.)--Boston College, 2008.

Improvements in molecular and computational technologies have driven and will continue to drive advances in our understanding of genetic variation and its relationship to phenotypic diversity. Over the last three years, several new DNA sequencing technologies have been developed that greatly improve upon the cost and throughput of the capillary DNA sequencing technologies that were used to sequence the first human genome. The economy of these so-called "next-generation" technologies has enabled researchers to conduct genome-wide studies in genetic variation that were previously intractable or too expensive.

ISBN: 9780549612926Subjects--Topical Terms:

1018415
Biology, Bioinformatics.

Discovery and interpretation of genetic variation with next-generation sequencing technologies.
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245 1 0 $a Discovery and interpretation of genetic variation with next-generation sequencing technologies.
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502 $a Thesis (Ph.D.)--Boston College, 2008.
520 $a Improvements in molecular and computational technologies have driven and will continue to drive advances in our understanding of genetic variation and its relationship to phenotypic diversity. Over the last three years, several new DNA sequencing technologies have been developed that greatly improve upon the cost and throughput of the capillary DNA sequencing technologies that were used to sequence the first human genome. The economy of these so-called "next-generation" technologies has enabled researchers to conduct genome-wide studies in genetic variation that were previously intractable or too expensive.
520 $a However, because the new technologies employ novel molecular techniques, the resulting sequence data is quite different from the capillary sequences to which the genomics field is accustomed. Moreover, the vast amounts of sequence data that these technologies produce present novel statistical and computational challenges in order to make even the simplest observations. The focus of my dissertation has been the development of novel computational and analytical methods that facilitate genome-wide studies in genetic variation with traditional capillary sequencers and with new sequencing technologies. I present a novel method that produces more accurate error estimates for sequence data from one of these next-generation sequencing technologies. I also present two studies that illustrate the utility of two such technologies for genome-wide polymorphism discovery studies in Drosophila melanogaster and Caenorhabditis elegans. These studies accurately estimate the degree of genetic diversity in the fruitfly and nematode, respectively. I later describe how new sequencing approaches can be used to accelerate the mapping of causal genetic mutations in forward genetic screens. Lastly, I remark on where I believe these technologies will lead future studies in human genetic variation and describe their relevance to several of my future research interests.
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