Haplotyping

This book aims to be an introduction to haplotype information for both the wet and dry labs. Chapters detail co-barcoding and linked-reads based methods, third generation sequencing based methods, Hi-C based methods, single-cell and Strand-seq, and methods for using haplotype data once obtained. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls.

Authoritative and cutting-edge, Haplotyping: Methods and Protocols aims to provide compréhensive and accessible methods to undergraduate, graduate, and established scientists.

Includes cutting-edge methods and protocols Provides step-by-step detail essential for reproducible results Contains key notes and implementation advice from the experts

Contenu

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.