Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Natalie B TanRachel StapletonZornitza StarkMartin B DelatyckiAlison YeungMatthew F HunterDavid J AmorNatasha J BrownChloe A StutterdGeorge McGillivrayPatrick YapMatthew ReganBelinda ChongMiriam Fanjul FernandezJustine MarumDean PhelanLynn S PaisSusan M WhiteSebastian LunkeTiong Yang Tan

Published in: Molecular genetics & genomic medicine (2020)

Our findings suggest that an interval of greater than 18 months from the original report may be optimal for reanalysis. We also recommend a multi-faceted strategy for cases remaining unsolved after singleton ES.

Keyphrases

case report
electronic health record
preterm birth
big data
copy number
gestational age
birth weight
machine learning
artificial intelligence