JCVI: The Importance of Phase Information for Human Genomics.
 
 
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Citation

Tewhey R, Bansal V, Torkamani A, Topol EJ, Schork NJ

The Importance of Phase Information for Human Genomics.

Nature Reviews. Genetics. 2011 Mar 01; 12: 215-23.

External Citation

Abstract

Contemporary sequencing studies often ignore the diploid nature of the human genome because they do not routinely separate or 'phase' maternally and paternally derived sequence information. However, many findings - both from recent studies and in the more established medical genetics literature - indicate that relationships between human DNA sequence and phenotype, including disease, can be more fully understood with phase information. Thus, the existing technological impediments to obtaining phase information must be overcome if human genomics is to reach its full potential.

This publication is listed for reference purposes only. It may be included to present a more complete view of a JCVI employee's body of work, or as a reference to a JCVI sponsored project.