Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping

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Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping

Interpretation of allelic copy measurements at polymorphic markers in cancer samples presents distinctive challenges and opportunities. Due to frequent gross chromosomal alterations occurring in cancer (aneuploidy), many genomic regions are present at homologus-allele imbalance. Within such regions, the unequal contribution of alleles at heterozygous markers allows for direct phasing of the hap...

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Haplotypes, combinations of several phase-determined polymorphic markers, are extremely valuable for studies of disease association and chromosome evolution. Here we describe a technique called M1-PCR (M for "multiplex" and 1 for "single-copy DNA molecules") that enables direct molecular haplotyping of several polymorphic markers separated by as many as 24 kb. A genomic DNA sample first is dilu...

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Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR.

Haplotypes, combinations of polymorphic markers in a chromosome, are critical for genome diversity research. However, their utility in population samplings is compromised by uncertain linkage phase determinations from unrelated individuals. Molecular haplotyping accomplishes direct phase determination by generation of hemizygous templates from diploid genomic samples. We report molecular haplot...

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ژورنال

عنوان ژورنال: Nature Precedings

سال: 2011

ISSN: 1756-0357

DOI: 10.1038/npre.2011.6494.1