puzzled by trinucleotide repeats test
The trinucleotide repeats are resposible for Huntington's disease and fragile X syndrome. Huntington's : normal-less than 27 'CAG' repeats disorder-more than 39 'CAG' repeats. fragile X syndrome : normal- 21 to 31 'CGG' repeats, disorder- more than 200 'CGG'. Anybody can tell me which instrument(next-generation equipment) is best for this specific gene test?
-
-
Hey Junchen
If this is indeed a legitimate post, it doesn't belong in Bioinformatics. I'll be moving it to General.
Also, the best instrument for this test is PCR.
-
454 is the only one currently prevalent that can handle sequences that long reliably. If you try sequencing these with 100bp Solexa or 50bp SOLiD reads, you'll end up getting lost inside the repeats.Originally posted by junchen View Post
As for PCR being more useful, I think it depends on your number of samples and application. If it's just for diagnostics, PCR should be sufficient.
If it's for a larger study where you want the precise number of trinucleotide repeats in a large number of samples, a 454 approach might be more effective.
Mendelian Disorder: A blogshare of random useful information for general public consumption. [Blog]
Breakway: A Program to Identify Structural Variations in Genomic Data [Website] [Forum Post]
Projects: U87MG whole genome sequence [Website] [Paper]Comment
-
Tumors contain complex mixtures of cell populations that evolve in response to treatment and host-specific factors. Tissue biopsies provide only static snapshots of a tumor’s state. But what if we could follow that evolution over time using a minimally invasive technique?
Liquid biopsies can detect tumor-derived material circulating in the bloodstream, providing a way to study treatment response, detect emerging resistance, and discover new biomarkers. Circulating...10-14-2026, 09:55 AM -
Researchers using sequencing and genomics tools often have to make trade-offs. They can choose between speed or scale, short reads or long-range information, or targeted panels or a view of the whole transcriptome. New technologies that have been released this year are built to address those tough choices.
We asked six companies the same four questions to learn about their latest products. The new technologies bring a lot to the table, including rethinking sequencing...
Comment