Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Ulrik Kristoffer StoltzeChristian Munch HagenThomas van Overeem HansenAnna ByrjalsenAnne-Marie GerdesVictor YakimovSimon RasmussenMarie Bækvad-HansenDavid Michael HougaardKjeld SchmiegelowHenrik HjalgrimKarin WadtJonas Bybjerg-Grauholm

Published in: Genome medicine (2023)

Our ultracheap genetic diagnostic method, which uses existing sequencing hardware and standard newborn blood spots, should readily open up opportunities for population-wide risk stratification using genetic screening across many fields of clinical genetics and genomics.

Keyphrases

copy number
single cell
genome wide
minimally invasive
single molecule
cell free
loop mediated isothermal amplification
dna methylation
gene expression
label free
circulating tumor cells