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Widely Used Reference for the Human Genome is Missing 300 Million Bits of DNA

posted by mrpg on Wednesday November 21 2018, @06:12AM   
from the 36MB!?!?!?!?!? dept.

upstart writes:

Submitted via IRC for SoyCow1984

Widely Used Reference for the Human Genome is Missing 300 Million Bits of DNA

Known as the GRCh38 reference genome, it is periodically updated with DNA sequences from other individuals, but in a new analysis, Johns Hopkins scientists now say that the collective genomes of 910 people of African descent have a large chunk — about 300 million bits — of genetic material that is missing from the basic reference genome.

“There’s so much more human DNA than we originally thought,” says Steven Salzberg, Ph.D., the Bloomberg Distinguished Professor of Biomedical Engineering, Computer Science, and Biostatistics at The Johns Hopkins University.

Knowing the variations in genomes across populations is essential to research design to reveal why certain people or groups of people may be more or less susceptible to common health conditions, such as heart disease, cancer and diabetes, and Salzberg says that scientists need to build more reference genomes that more closely reflect different populations.

“The whole world is relying on what is essentially a single reference genome, and when a particular DNA analysis doesn’t match the reference and you throw away those non-matching sequences, those discarded bits may in fact hold the answers and clues you are seeking,” says Salzberg.

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Original Submission

• Big Shocking Number Syndrome Big Shocking Number Syndrome (Score: 3, Touché) by tangomargarine on Wednesday November 21 2018, @03:47PM (1 child)

  by tangomargarine (667) on Wednesday November 21 2018, @03:47PM (#764764)

  For a scientific publication, I really expected to be able to find the number of total genes not buried so fricking deep in the article. Is 300 million shocking because the genome is only 305 million, or is this clickbait because the genome is actually 5 billion?

  In all, they found 300 million base pairs of DNA — which is about 10 percent of the estimated size of the entire human genome — that the reference genome did not account for. The largest section of unique DNA they found was 152,000 base pairs long, but most chunks were about 1,000–5,000 base pairs long.

  So, the latter then.

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• Re:Big Shocking Number Syndrome (Score: 2) by HiThere on Wednesday November 21 2018, @06:14PM

  by HiThere (866) on Wednesday November 21 2018, @06:14PM (#764857) Journal

  10% is a bit more than "a minor fluff". How serious it is, though, depends on what's in the missing chunks. Based on technical problems, I'd be willing to bet that a lot of it is in high repetition areas.

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