Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.

María I Pérez MillánSebastian A VishnopolskaAlexandre Z DalyJuan P BustamanteAdriana SeilicovichIgnacio BergadáDébora BraslavskyAna C KeselmanRosemary M LemonsAmanda H MortensenMarcelo A MartiSally Ann CamperJacob O Kitzman

Published in: Molecular genetics & genomic medicine (2018)

smMIPS is an efficient and inexpensive method to detect mutations in patients with hypopituitarism, drastically limiting the need for screening individual genes by Sanger sequencing.

Keyphrases

single molecule
living cells
atomic force microscopy
young adults
genome wide
copy number
single cell
contrast enhanced
bioinformatics analysis
circulating tumor
small molecule
dna methylation
computed tomography
magnetic resonance