Sequence Variant Nomenclature This website clearly explains what codes like NG_012232.1(NM_004006.2):c.93+1G>T and p.Trp24Cys mean. Ensembl This...
Abstract Inborn errors of metabolism have traditionally been viewed as the quintessential single gene disorders; defects in one gene leads to...
We have used mice with inborn errors of mitochondrial fatty acid beta-oxidation to test the concept of synergistic heterozygosity. We postulated...
Inborn errors of metabolism show considerable variation in the severity of symptoms. This is often ascribed to the differential effects of...
Genetic testing can be performed with a device called SNP chip. Not all genetic testing is done with these. Direct-to-consumer genetic testing...
I thought a thread for any special offers would be useful. Currently Nebula have free worldwide delivery, and WGS x30 for $299 (normal price...
I’m currently pondering whether to do a whole genome sequence test or not and I am hoping to solicit some educated comments. here’s the...
My summary: hereditary neurological diseases are difficult to diagnose. The study assessed the usefulness of whole exome sequencing as first-line...
Apparently most of the population have variants or absence of the CYP2C19 gene. But how do I figure out from the raw genetic data (rs17878459 etc...
The article weaves the story of a young sick girl thru it by discussing how genetic testing has resulted in her diagnosis changing over and over...
DNA testing is big business - but what do you really find out when you send off your spit sample? https://www.bbc.co.uk/programmes/w3cswqtv BBC...
Separate names with a comma.
