All mutations identified by Pyrosequencing were then confirmed and, in addition, one more mutated sample was identified in this subset of 56 samples.
Welander, J. et al. Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.
The signature analysis of each subclone, represented by a cluster of mutations identified by the Dirichlet process, was limited to clusters with more than 100 substitutions.
The intersection of the mutations identified by WGS revealed isocitrate dehydrogenase (ICD) as consistent target in three independently evolved mutants.
The somatic mutations identified by the immunogene panel in patients 1 and 2 (PROM1, PROM1, C5, IRF1, SLAMF6 and SEC14L3) were screened in 82 RA patients with targeted amplicon sequencing (coverage 4,000 79,000 ×, sensitivity 0.5% (ref. 14)).
Here, we investigated point mutations identified by whole-genome sequencing in mouse and human iPSCs in the context of epigenetic status.
Rebbeck found that men who carried two of the mutations identified by Tavtigian were more than twice as likely to have prostate cancer.
EGFR mutations identified by sequencing were collected from 66 published papers and our updated EGFR mutation database (www.egfr.org).
This is similar to the initial Min resistant FtsZ mutations identified by Bi and Lutkenhaus [26], [27].
Several mutations identified by mutagenesis studies (L417V, TMH1 [64]; S562A, ECL2 [64]; Y605A, TMH5 [41]; N658A, ECL3 [65]) of the TSHR are characterized by the same functional finding.
Table 3 details the genotyping of 65 geographically and ethnically diverse J2b mtDNAs for private coding region mutations, identified by complete sequencing of the Azerbaijani Jewish sample.
