How many genes in the human genome? The debate rages on

harnessing the human genome
Credit: Harvard Medical School
[In 2000] geneticists were running a sweepstake on how many genes humans have, and wagers ranged from tens of thousands to hundreds of thousands. Almost two decades later, scientists armed with real data still can’t agree on the number—a knowledge gap that they say hampers efforts to spot disease-related mutations.

The latest attempt to plug that gap uses data from hundreds of human tissue samples and was posted on the BioRxiv preprint server on 29 May. It includes almost 5,000 genes that haven’t previously been spotted—among them nearly 1,200 that carry instructions for making proteins.

But many scientists say they need more evidence to be convinced that the list is accurate. Adam Frankish, a computational biologist at the EBI who coordinates the manual annotation of GENCODE, says that he and his group have scanned about 100 of the protein-coding genes identified by Salzberg’s team. By their assessment, only one of those seems to be a true protein-coding gene.


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Having an accurate tally of all human genes is important for efforts to uncover links between genes and disease. Uncounted genes are often ignored, even if they contain a disease-causing mutation, Salzberg says. But hastily adding genes to the master list can pose risks, too, says Frankish. A gene that turns out to be incorrect can divert geneticists’ attention away from the real problem.

Read full, original post: New Human Gene Tally Reignites Debate

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