Scalable detection of technically challenging variants through modified next-generation sequencing.

Susan RojahnTina HambuchJessika AdrianErik GafniAlex GiletaHannah HatchellBritt JohnsonBen KallmanKate KarfilisCurtis KautzerMichael KennemerLloyd KirkDaniel KvitekJessica LettesFenner MacraeFernando MendezJoshua PaulMaurizio PellegrinoRonny PreciadoJan RisingerMatthew SchultzLindsay SpurkaSajani SwamyRebecca TrutyNathan UsemAndrea VelenichSwaroop Aradhya

Published in: Molecular genetics & genomic medicine (2022)

NGS assays can detect technically challenging variants when chemistries and bioinformatics are jointly refined. The adaptations described support a scalable, cost-effective path to identifying all clinically relevant variants within a single sample.

Keyphrases

copy number
genome wide
high throughput
high intensity
loop mediated isothermal amplification
quantum dots
circulating tumor
single cell
circulating tumor cells