Sequence variation in genes and genomic DNA: methods for large-scale analysis.

The large-scale typing of sequence variation in genes and genomic DNA presents new challenges for which it is not clear that current technologies are sufficiently sensitive, robust, or scalable. This review surveys the current platform technologies: separation-based approaches, which include mass sp...

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Main Authors: Mir, K, Southern, E
Format: Journal article
Language:English
Published: 2000
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author Mir, K
Southern, E
author_facet Mir, K
Southern, E
author_sort Mir, K
collection OXFORD
description The large-scale typing of sequence variation in genes and genomic DNA presents new challenges for which it is not clear that current technologies are sufficiently sensitive, robust, or scalable. This review surveys the current platform technologies: separation-based approaches, which include mass spectrometry; homogeneous assays; and solid-phase/array-based assays. We assess techniques for discovering and typing variation on a large scale, especially that of single-nucleotide polymorphisms. The in-depth focus is the DNA chip/array platform, and some of the published large-scale studies are closely examined. The problem of large-scale amplification is addressed, and emerging technologies for present and future needs are indicated.
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spelling oxford-uuid:c3e43abb-ba91-4123-b8bb-f252ddd5542d2022-03-27T06:19:45ZSequence variation in genes and genomic DNA: methods for large-scale analysis.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c3e43abb-ba91-4123-b8bb-f252ddd5542dEnglishSymplectic Elements at Oxford2000Mir, KSouthern, EThe large-scale typing of sequence variation in genes and genomic DNA presents new challenges for which it is not clear that current technologies are sufficiently sensitive, robust, or scalable. This review surveys the current platform technologies: separation-based approaches, which include mass spectrometry; homogeneous assays; and solid-phase/array-based assays. We assess techniques for discovering and typing variation on a large scale, especially that of single-nucleotide polymorphisms. The in-depth focus is the DNA chip/array platform, and some of the published large-scale studies are closely examined. The problem of large-scale amplification is addressed, and emerging technologies for present and future needs are indicated.
spellingShingle Mir, K
Southern, E
Sequence variation in genes and genomic DNA: methods for large-scale analysis.
title Sequence variation in genes and genomic DNA: methods for large-scale analysis.
title_full Sequence variation in genes and genomic DNA: methods for large-scale analysis.
title_fullStr Sequence variation in genes and genomic DNA: methods for large-scale analysis.
title_full_unstemmed Sequence variation in genes and genomic DNA: methods for large-scale analysis.
title_short Sequence variation in genes and genomic DNA: methods for large-scale analysis.
title_sort sequence variation in genes and genomic dna methods for large scale analysis
work_keys_str_mv AT mirk sequencevariationingenesandgenomicdnamethodsforlargescaleanalysis
AT southerne sequencevariationingenesandgenomicdnamethodsforlargescaleanalysis