Impact of DNA source on genetic variant detection from human whole-genome sequencing data.

Brett TrostSusan WalkerSyed A HaiderWilson W L SungSergio PereiraCharly L PhillipsEdward J HigginbothamLisa J StrugCharlotte NguyenAkshaya RaajkumarMichael J SzegoChristian R MarshallStephen W Scherer

Published in: Journal of medical genetics (2019)

For WGS, we recommend using DNA extracted from blood rather than saliva or buccal swabs; if saliva or buccal samples are used, we recommend against using methylation-based eukaryotic DNA enrichment. All data used in this study are available for further open-science investigation.

Keyphrases

circulating tumor
cell free
single molecule
electronic health record
endothelial cells
genome wide
big data
public health
dna methylation
minimally invasive
nucleic acid
data analysis
sensitive detection
quantum dots