Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

MosaicKCNJ2mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism

(2014) K. Hasegawa et al.   CLINICAL GENETICS

Enhanced Sensitivity for Detection of Low-Level Germline MosaicRB1Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing

(2013) Zhao Chen et al.   HUMAN MUTATION

Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity

(2012) DG Evans et al.   CLINICAL GENETICS

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

(2010) Wei Qin et al.   HUMAN GENETICS

SMARCB1/INI1maternal germ line mosaicism in schwannomatosis

(2009) TJM Hulsebos et al.   CLINICAL GENETICS