Thorsten Klampfl.

The just affected gene was CALR recurrently, encoding calreticulin. Two sufferers had somatic deletions in exon 9 of CALR. PCR-product subcloning and sequencing revealed that Patient H_0191 got a 52-bp deletion and Patient H_0296 experienced a 1-bp deletion . As the 52-bp deletion in Patient H_0191 was incorrectly annotated as a 1-bp deletion coupled with a single nucleotide variant by our variant-calling analysis pipeline , we examined the sequence alignment because of this patient manually.‘In the next five years, the use of whole genome sequencing techniques in the laboratory and subsequently the clinic is a very real possibility,’ stated Dr. Karen Mann, President of AMP. ‘There exists a coming shift from using targeted molecular tests to using entire genome sequencing techniques and AMP commends the Committee for concentrating its attention on the countless problems to the adoption of entire genome sequencing into scientific treatment.’ As the technology developments, AMP’s concerns concentrate on the scientific applications of entire genome sequencing. The introduction or adoption of the technology itself isn’t controversial, but how scientific laboratories apply the technology and physicians utilize the information to inform clinical decision-producing can generate many ethical challenges and laboratory practice questions.

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