No human genome has ever been completely sequenced

what do you mean, "the" human genome?

In other words they don't know what they're doing and they're making it up as they go along -- "yeah, that part there is probably unused", "oh, wait, it's important after all".

As usual, the journalist spends many paragraphs painting a picture of human conflict before actually getting on to the interesting claim.

> The reason for these gaps is that DNA sequencing machines don’t read genomes like humans read books, from the first word to the last. Instead, they first randomly chop up copies of the 23 pairs of chromosomes, which total some 3 billion “letters,” so the machines aren’t overwhelmed. The resulting chunks contain from 1,000 letters (during the Human Genome Project) to a few hundred (in today’s more advanced sequencing machines). The chunks overlap. Computers match up the overlaps, assembling the chunks into the correct sequence.

> That’s between difficult and impossible to do if the chunks contain lots of repetitive segments, such as TTAATATTAATATTAATA, or TTAATA three times. “The problem is, when you have the same exact words, it’s hard to assemble,” said Lander, just as if jigsaw puzzle pieces show the same exact blue sky.

> In 2004, the genome project reported that there were 341 gaps in the sequence. Most of the gaps — 250 — are in the main part of each chromosome, where genes make the proteins that life runs on. These gaps are tiny. Only a few gaps — 33 at last count — lie in or near each chromosome’s centromere (where the two parts of a chromosome connect) and telomeres (the caps at the end of chromosomes), but these 33 are 10 times as long in total as the 250 gaps.

I recommend reading HN user eggie's comments on this from last week.

https://news.ycombinator.com/item?id=15482439 https://news.ycombinator.com/item?id=15483462

I expect us to use the long reads from ONT and PacBio to discover that structural variation is even more important and common than previously appreciated. If that's the case, you'd be silly to use the Illumina technology for anything more complex than population genetics, and this will probably trickle into many parts of the market as the medically-relevant parts of the field realize what the basic science is demonstrating.

yes, that's kind of the idea of doing research. you know, to learn things that we don't know yet.

or did you think science was a book of unambiguous answers that only the godly scientist may read?