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020 _a9781603273671
_9978-1-60327-367-1
024 7 _a10.1007/978-1-60327-367-1
_2doi
050 4 _aQD415-436
072 7 _aPSB
_2bicssc
072 7 _aSCI007000
_2bisacsh
072 7 _aPSB
_2thema
082 0 4 _a572
_223
245 1 0 _aGenetic Variation
_h[electronic resource] :
_bMethods and Protocols /
_cedited by Michael R. Barnes, Gerome Breen.
250 _a1st ed. 2010.
264 1 _aTotowa, NJ :
_bHumana Press :
_bImprint: Humana,
_c2010.
300 _aXI, 388 p.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
490 1 _aMethods in Molecular Biology,
_x1940-6029 ;
_v628
505 0 _aGenetic 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.
520 _aWith 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.
650 0 _aBiochemistry.
650 0 _aMedical genetics.
650 0 _aMolecular genetics.
650 1 4 _aBiochemistry.
650 2 4 _aMedical Genetics.
650 2 4 _aMolecular Genetics.
700 1 _aBarnes, Michael R.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aBreen, Gerome.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
710 2 _aSpringerLink (Online service)
773 0 _tSpringer Nature eBook
776 0 8 _iPrinted edition:
_z9781603273664
776 0 8 _iPrinted edition:
_z9781607616559
776 0 8 _iPrinted edition:
_z9781627038263
830 0 _aMethods in Molecular Biology,
_x1940-6029 ;
_v628
856 4 0 _uhttps://doi.org/10.1007/978-1-60327-367-1
912 _aZDB-2-PRO
999 _c5775
_d5775