Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.

Monica PenonHengameh ZahedVictoria BergerIrene SuJoseph T C Shieh

Published in: Molecular genetics & genomic medicine (2018)

The application of genetic testing in the healthy population here highlights the broader utility of genomic sequencing in evaluating unexplained recurrent neonatal loss, especially when genetic testing is not available on the affected neonates.

Keyphrases

copy number
single cell
gene expression
low birth weight
genome wide
preterm birth