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Author:   Brock A. Peters ,  Radoje Drmanac
Publisher:   Springer-Verlag New York Inc.
Imprint:   Springer-Verlag New York Inc.
Edition:   1st ed. 2023
Volume:   2590
Weight:   0.596kg
ISBN:  

9781071628218

ISBN 10:   1071628216
Pages:   298
Publication Date:   08 November 2023
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Paperback
Publisher's Status:   Active
Availability:   Manufactured on demand  
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Table of Contents

Interrogating the human diplome: computational methods, emerging applications, and challenges.- Targeted Locus Amplification and Haplotyping.- Full length transcript phasing with third generation sequencing.- Large scale complete sequencing and haplotyping of 1-10 kb DNA molecules using short massively parallel reads.- Accurate sequencing and haplotyping from 10 cells using Long Fragment Read (LFR) Technology.- Low-cost genome-scale phasing with barcode-linked sequencing.- A simple cost-effective method for whole genome sequencing, haplotyping, and assembly.- Read-based phasing and analysis of phased variants with WhatsHap.- Hapcut2, a method for phasing genomes using experimental data.- Determining complete chromosomal haplotypes by mLinker.- Haplotyping-assisted diploid assembly and variant detection with linked-reads.- Chromosome-length haplotypes with StrandPhaseR and Strand-seq.- Gamete-binning to achieve haplotype-resolved genome assembly.- Phasing DNA Methylation.- Analysis of 1276 haplotype-resolved genomes allows characterization of cis- and trans-abundant genes.- Phased genome assemblies.- Haplotype-assisted noninvasive prenatal diagnosis of genetic diseases by massively parallel sequencing of maternal plasma cell-free DNA.  

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