All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

Brigitte H W FaasDineke WestraSonja A de MunnikMaartje van RijCarlo MarcelisSara JoostenIngrid KrapelsVivian VernimmenMalou HeijligersMarjolein H WillemsenNicole de LeeuwTuula RinneRolph PfundtSanne P SmeekensSander P A StegmannMerryn V E MacvilleEsther SikkelAudrey CoumansLia WijnbergerIrma DerksJosefa van Lent-AlbrechtsTom HofsteRaoul TimmermansJanneke van den EndServi J C StevensIlse Feenstra

Published in: Prenatal diagnosis (2023)

We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result.

Keyphrases

copy number
highly efficient
mitochondrial dna
magnetic resonance imaging
genome wide
dna methylation
gene expression
gestational age
quantum dots
data analysis