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Within the whole cohort of analyzed embryos, six had no detectable mutation (detection threshold: 2%).
In a cohort of 1068 retinoblastoma patients, Gallie and co-workers identified a subset of 29 patients (2.7%) with no detectable mutation in RB1, where 52% of these had MYCNA.
Ten percent have no detectable mutation.
Dilutions corresponding to 1.25-2.5% tumor cells still revealed detectable mutation signals.
Using this threshold, six of seven samples had a detectable mutation.
Overall, seven (14.6%) melanoma families had a detectable mutation in p16 CDKN 2 A or BRCA2 gene.
Similar(31)
To extend the power of detectable mutations using short reads, ScanIndel employs an assembly strategy to detect large indels.
DNA sequencing of the TGFBR2 gene revealed no detectable mutations.
To report four patients with aniridia, preserved visual function, and no detectable mutations in PAX6.
We studied ten children exhibiting congenital hyperinsulinism, without detectable mutations in the known congenital hyperinsulinism-causing genes.
Tumors with defects in DNA-mismatch repair harbored large numbers of mutations, whereas other types of tumor revealed no detectable mutations.
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CEO of Professional Science Editing for Scientists @ prosciediting.com