UID:
edoccha_9958999804602883
Format:
1 online resource (XI, 388 p.)
Edition:
1st ed. 2010.
ISBN:
1-60327-367-0
Series Statement:
Methods in Molecular Biology, 628
Content:
With the continuing advances in sequencing technologies and the availability of thousands of distinct human genomes, we are fast approaching the day when "personal genomes" become a standard study measure and a routine component of personal health records. In Genetic Variation: Methods and Protocols, expert researchers address the rising importance of genome variation, both at the level of the individual and in population-based studies of disease, with a collection of detailed protocols reflecting the nature and impact of genetic variation on human phenotypes. The contributions cover a majority of the most important forms of genetic variation studied today, including single nucleotide polymorphisms (SNPs), insertions/deletion (indels), copy number variation (CNVs), variable number tandem repeats (VNTRs), mitochondrial variation, mobile elements, and epigenetic variation. As a volume in the highly successful Methods in Molecular Biology™ series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls. Convenient and cutting-edge, Genetic Variation: Methods and Protocols aims to bring bench scientists, clinicians, and bioinformaticians together in order to aid progress toward a greater understanding of the full impact of variation on human health and disease.
Note:
Bibliographic Level Mode of Issuance: Monograph
,
Genetic Variation Analysis for Biomedical Researchers: A Primer -- Exploring the Landscape of the Genome -- Asking Complex Questions of the Genome Without Programming -- Laboratory Methods for the Detection of Chromosomal Abnormalities -- Cancer Genome Analysis Informatics -- Copy Number Variations in the Human Genome and Strategies for Analysis -- A Short Primer on the Functional Analysis of Copy Number Variation for Biomedical Scientists -- Computational Methods for the Analysis of Primate Mobile Elements -- Laboratory Methods for the Analysis of Primate Mobile Elements -- Practical Informatics Approaches to Microsatellite and Variable Number Tandem Repeat Analysis -- Assessing the Impact of Genetic Variation on Transcriptional Regulation In Vitro -- Whole Genome Sequencing -- Detection of Mitochondrial DNA Variation in Human Cells -- An Introduction to Mitochondrial Informatics -- Web-Based Analysis of (Epi-) Genome Data Using EpiGRAPH and Galaxy -- Short Tandem Repeats and Genetic Variation -- Bioinformatic Tools for Identifying Disease Gene and SNP Candidates -- Analysis of the Impact of Genetic Variation on Human Gene Expression -- Quality Control for Genome-Wide Association Studies -- Gaining a Pathway Insight into Genetic Association Data.
,
English
Additional Edition:
ISBN 1-62703-826-4
Additional Edition:
ISBN 1-60327-366-2
Language:
English
DOI:
10.1007/978-1-60327-367-1
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