文献_2014-Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing.pdfVIP
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t e c h n i c a l r e p o rt s Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing 1 1 1 1 1 1 Sasan Amini , Dmitry Pushkarev , Lena Christiansen , Emrah Kostem , Tom Royce , Casey Turk , 1 2 2 1 1 2 Natasha Pignatelli , Andrew Adey , Jacob O Kitzman , Kandaswamy Vijayan , Mostafa Ronaghi , Jay Shendure , . 1 1 d Kevin L Gunderson Frank J Steemers e v r e s 1 e Haplotype-resolved genome sequencing enables the accurate data . Based on the quality and breadth of the reference genomes r s interpretation of medically relevant genetic variation, deep used, these methods cannot necessarily deliver phasing information t inferences regarding population history and non-invasive across the whole genome. Because the performance of computational h g i prediction of fetal genomes. We describe an approach for phasing is contingent upon multiple parameters, including sample r l l genome-wide haplotyping based on contiguity-preserving size, density of genetic markers, degree of relatedness, sample ances- A 10 . transposition (CPT-seq) and combinatorial indexing. Tn5 try and allele frequency , its performance for genome-wide phasing c n transposition is used to modify DNA with adaptor and index
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