A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.

Alison YeungNatalie B TanTiong Y TanZornitza StarkNatasha BrownMatthew F HunterMartin DelatyckiChloe StutterdRavi SavarirayanGeorge McgillivrayRachel StapletonSmitha KumbleLilian DownieMatthew ReganSebastian LunkeBelinda ChongDean PhelanGemma R BrettAnna JarmolowiczYael PrawerGiulia ValenteYana SmagarinskyMelissa MartynCallum McEwanIlias GoranitisClara GaffSusan M White

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

GS in complex pediatric patients saves significant costs and doubles the diagnostic yield of traditional approaches.

Keyphrases

single cell
copy number
gene expression
dna methylation