Whole-genome haplotyping approaches and genomic medicine
نویسندگان
چکیده
منابع مشابه
O-38: Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...
متن کاملI-44: Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...
متن کاملWhole-genome haplotyping by dilution, amplification, and sequencing.
Standard whole-genome genotyping technologies are unable to determine haplotypes. Here we describe a method for rapid and cost-effective long-range haplotyping. Genomic DNA is diluted and distributed into multiple aliquots such that each aliquot receives a fraction of a haploid copy. The DNA template in each aliquot is amplified by multiple displacement amplification, converted into barcoded se...
متن کاملFosmid-based whole genome haplotyping of a HapMap trio child: evaluation of Single Individual Haplotyping techniques
Determining the underlying haplotypes of individual human genomes is an essential, but currently difficult, step toward a complete understanding of genome function. Fosmid pool-based next-generation sequencing allows genome-wide generation of 40-kb haploid DNA segments, which can be phased into contiguous molecular haplotypes computationally by Single Individual Haplotyping (SIH). Many SIH algo...
متن کاملRecent Advances in Experimental Whole Genome Haplotyping Methods
Haplotype plays a vital role in diverse fields; however, the sequencing technologies cannot resolve haplotype directly. Pioneers demonstrated several approaches to resolve haplotype in the early years, which was extensively reviewed. Since then, numerous methods have been developed recently that have significantly improved phasing performance. Here, we review experimental methods that have emer...
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ژورنال
عنوان ژورنال: Genome Medicine
سال: 2014
ISSN: 1756-994X
DOI: 10.1186/s13073-014-0073-7