Challenges, Solutions, and Quality Metrics of Personal Genome Assembly in Advancing Precision Medicine.

ABSTRACT: Even though each of us shares more than 99% of the DNA sequences in our genome, there are millions of sequence codes or structure in small regions that differ between individuals, giving us different characteristics of appearance or responsiveness to medical treatments. Currently, genetic variants in diseased tissues, such as tumors, are uncovered by exploring the differences between the reference genome and the sequences detected in the diseased tissue. However, the public reference genome was derived with the DNA from multiple individuals. As a result of this, the reference genome is incomplete and may misrepresent the sequence variants of the general population. The more reliable solution is to compare sequences of diseased tissue with its own genome sequence derived from tissue in a no

SUBMITTER: Xiao W 

PROVIDER: S-EPMC4932478 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature