Pitfalls in genetic testing

Pitfalls in genetic testing: the story of missed SCN1A mutations

BACKGROUND Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and N...

Pitfalls of statistical hypothesis testing: multiple testing.

The word " five " is missing from the third sentence of the fifth paragraph in the online answers to this Endgames article by Philip Sedgwick (BMJ 2014;349:g5310, doi:10.1136/bmj. g5310). The sentence should have read: " For example, the probability of a significant result when there are two, three, four, and five hypothesis tests is 0.

GUI Testing: Pitfalls and Process

G raphical user interfaces have become a nearly ubiquitous means of interacting with software systems. The GUI responds to user events, such as mouse movements or menu selections , providing a front end to the underlying application code. The GUI interacts with the underlying code through messages or method calls. GUIs make software easy to use, and developers are dedicating a larger portion of...

Pitfalls and Strategies in Automated Testing

Pitfalls of genetic counselling in Pfeiffer's syndrome.

A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.