five

Haplotype phasing of an individual human genome

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NIAID Data Ecosystem2026-03-12 收录
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https://www.ncbi.nlm.nih.gov/sra/ERP000494
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We have established a novel fosmid-based approach to haplotype resolve whole genomes directly by next generation sequencing (NGS). Variant positions (SNPs, indels and CNVs) within the genome are detected, and identical alleles at heterozygous, haplotype-informative positions allow the haploid fosmids to be assigned to one of two physical haplotype sequences. This prepares the foundation to tile overlapping fosmids into long contiguous molecular haplotype sequences.
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2021-02-04
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