Sequencing of isolated sperm cells for direct haplotyping of a human genome
نویسندگان
چکیده
منابع مشابه
Ultraaccurate genome sequencing and haplotyping of single human cells
Accurate detection of variants and long-range haplotypes in genomes of single human cells remains very challenging. Common approaches require extensive in vitro amplification of genomes of individual cells using DNA polymerases and high-throughput short-read DNA sequencing. These approaches have two notable drawbacks. First, polymerase replication errors could generate tens of thousands of fals...
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Background and Objective: Enterococcal infections are considered the most common nosocomial infections. Nowadays, enterococci show high resistance to common antibiotics, especially vancomycin. Vancomycin-resistant Enterococcus faecium is one of the most common nosocomial infections, which is included in the World Health Organization priority pathogens list for research and development of new an...
متن کاملO-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...
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Recent advances in whole genome sequencing have brought the vision of personal genomics and genomic medicine closer to reality. However, current methods lack clinical accuracy and the ability to describe the context (haplotypes) in which genome variants co-occur in a cost-effective manner. Here we describe a low-cost DNA sequencing and haplotyping process, Long Fragment Read (LFR) technology, s...
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ژورنال
عنوان ژورنال: Genome Research
سال: 2013
ISSN: 1088-9051
DOI: 10.1101/gr.144600.112