Article
Comparison of phasing strategies for whole human genomes.
PLoS genetics - 1 Apr 2018
Choi Yongwook, Chan Agnes P, Kirkness Ewen, Telenti Amalio, Schork Nicholas J
Abstract excerpt
Humans are a diploid species that inherit one set of chromosomes paternally and one homologous set of chromosomes maternally. Unfortunately, most human sequencing initiatives ignore this fact in that they do not directly delineate the nucleotide content of the maternal and paternal copies of the 23 chromosomes individuals possess (i.e., they do not 'phase' the genome) often because of the costs and complexities...
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