Harlanda M et al. – The standard for mutation detection across groups within GenoMEL (Melanoma Genetics Consortium) is consistently high; the relatively low rate of CDKN2A mutation detection is not due to failure to detect mutations but implies existence of other high-penetrance melanoma susceptibility genes Methods
Comparison of mutation detection rates by “blind” exchange of samples across GenoMEL to establish false-negative detection rates
Comparison of results from 451 denaturing high-performance liquid chromatography (DHPLC) screening samples with screening data from 9 research groups with initial mutation screen predominantly by sequencing
Results
DHPLC screen did not detect 3 samples with mutations identified at the local centers; DHPLC did not detect additional mutations
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