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Genetic Linkage

The Age of the Pangenome Dawns

"Pan" has several meanings.

 

As a noun, it refers to "a round metal container that often has a long handle and a lid."

 

As a verb, it means criticism, like panning a film.

 

Peter Pan refers to an adult who doesn't want to behave like one, from Sir James Barrie's play about the boy who didn't want to grow up

 

As a prefix, "pan," from the Greek, means "all, every, whole, and all-inclusive."

 

Sigmund Freud reportedly used the term pan-sexualism in 1914, to mean "sex as a motivator of all things."

 

In genetics, the human pangenome is a complete reference of human genome diversity. It is envisioned as a new type of map that represents all of the ways that the sequence of 3,054,832 billion DNA base pairs – the building blocks of a genome – vary, plus or minus a few from short repeated sequences. The depiction is so densely packed that it resembles a map of the New York City subway system.

 

The Human Pangenome Reference Consortium is spearheading creation of a "genome reference representation that can capture all human genome variation and support research on the full diversity of populations."

 

 

To continue reading, go to DNA Science, where this post first appeared.

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Nobel Prize to Paleogenetics Rockstar Svante Pääbo Evokes Memories of Being Drawn to Science

One of my favorite places as a child was the American Museum of Natural History. While most kids would rush to the towering dinosaur skeletons, I'd stand, transfixed, at a small glass-enclosed display of skulls and try to envision what their owners had looked like – australopithecines, Neanderthals, a few others. I remember that part of the museum as The Hall of Man; it's now the Hall of Human Origins.

 

Discovering My First Fossil

 

I loved the museum, but yearned to discover things myself. That happened when I was in the fourth grade, and my parents took my sister and me to the Baseball Hall of Fame in Cooperstown, NY. We couldn't have cared less about baseball. But behind the motel, we waded in a stream, where the angle of the sun on the wet rocks revealed striking patterns of stripes. I picked one up, and realized that it wasn't an ordinary rock.

 

It was a fossil. Edith and I spent the weekend collecting.

 

To continue reading, go to DNA Science, where this post first appeared.

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