You’re slightly misappropriating Jefferson’s hologenome concept here – he only intended it to mean the high genomic overlap between microbes and eukaryotes (consider his “mouse-in-a-blender” section).

Cancer most certainly is a “Mendelian” disease, as demonstrated, for example, in the elevated likelihood of breast cancer in women expressing the BRCA mutation, and numerous other oncogenes or tumour suppresor mutations have been identified which are implicated in various cancers. And it’s a hugely sweeping statement to say that “many … diseases are NOT Mendelian” – you really have no evidence for that (assuming you mean hereditary diseases).

That said, I strongly agree that understanding the transcriptome is important – 95% of multiexonic human genes are alternatively spliced (http://www.nature.com/ng/journal/v40/n12/full/ng.259.html). To infer from this that alternative splicing events might be implicated in some hereditary diseases is a logical next step.

And this brings up a general comment to all our readers: while we can’t address every grammar mistake or include all the information in the internet, we do strive to be factual accurate. So, if you find a science mistake, let me know, I’ll do my best to make it right.

And this brings up a general comment to all our readers: while we can’t address every grammar mistake or include all the information in the internet, we do strive to be factual accurate. So, if you find a science mistake, let me know, I’ll do my best to make it right.

The above study was neither; “While the sequencing used in these tests spanned the entire genome of the patients, only the portions corresponding to protein coding were examined”. Looking at only the “genes” (1.3% of the human genome) is the so-called “exome sequencing” – that in fact leaves even the intronic sequences of the “genes” out. Diseases that can be diagnosed by “Exome sequencing” are limited to “Mendelian diseases”, where glitches are in the exons (the smaller and directly amino-acid coding parts) of the genes. While there are ~3,000 such diseases known (and nobody knows of the number of total out there…), many of the most widespread and devastating diseases are NOT Mendelian (Cancers, Parkinson’s, Alzheimer’s, etc, that are likely to be hologenome regulatory syndromes).

Whole human DNA sequencing is sure to come for the masses (for ~50 individuals the full DNA sequencing is already done).

The colossal challenge is to develop an algorithmic understanding of hologenome regulation – such that the whole genome is not only sequenced, but the effect of myriads of “structural variations” can be effectively interpreted, on a cost-effective and timely basis.

Pellionisz_at_JunkDNA.com

The above study was neither; “While the sequencing used in these tests spanned the entire genome of the patients, only the portions corresponding to protein coding were examined”. Looking at only the “genes” (1.3% of the human genome) is the so-called “exome sequencing” – that in fact leaves even the intronic sequences of the “genes” out. Diseases that can be diagnosed by “Exome sequencing” are limited to “Mendelian diseases”, where glitches are in the exons (the smaller and directly amino-acid coding parts) of the genes. While there are ~3,000 such diseases known (and nobody knows of the number of total out there…), many of the most widespread and devastating diseases are NOT Mendelian (Cancers, Parkinson’s, Alzheimer’s, etc, that are likely to be hologenome regulatory syndromes).

Whole human DNA sequencing is sure to come for the masses (for ~50 individuals the full DNA sequencing is already done).

The colossal challenge is to develop an algorithmic understanding of hologenome regulation – such that the whole genome is not only sequenced, but the effect of myriads of “structural variations” can be effectively interpreted, on a cost-effective and timely basis.

Pellionisz_at_JunkDNA.com