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In humans, reference values of several blood components in young, middle-aged, old and centenarian individuals have been established [ 14, 15].
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These genomes will be sequenced again and phased, as will the human reference genome, he says.
We used the publicly available human reference standard genome NA12878 with R9.4 chemistR9.4.
The authors use this to close gaps in the human reference genome and map structural variation.
The mapping results from databases (ii)–(iv) were aligned to human reference genome coordinates.
First, we conducted reads alignment to human reference genome and some soft-clipped reads were extracted.
Raw reads were aligned to the human reference genome (GRCh37/hg19 assembly version), using bwa mem 0.7.1241.
Note that the human reference sequence implies phenylalanine residue instead of the evolutionary conserved leucine.
The reads were aligned to the human reference genome (GRCh37) using Isis Smith-Waterman-Gotoh (v2.6).
Reads were aligned to the human reference genome, NCBI build 36 (http://hgdownload.cse.ucsc.edu/goldenPath/hg18/bigZips/), using BLAT.
Even though they test all approaches on the human reference genome, says Phillippy, each genome presents its unique challenges.
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