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A12 SCIENCE
Friday 1 april 2022

Scientists finally finish decoding entire

human genome

lettered pairs that contain
instructions for making pro-
teins, the building blocks of
life. Humans have about
30,000 genes, organized in
23 groups called chromo-
somes that are found in the
nucleus of every cell.
Before now, there were
“large and persistent gaps
that have been in our map,
and these gaps fall in pret-
In this April 14, 2003 file photo, Dr. Francis Collins, director of ty important regions,” Miga
the National Human Genome Research Institute, announces
the successful completion of the human genome project in said.
Bethesda, Md. Miga, a genomics re-
Associated Press searcher at the University
of California-Santa Cruz,
By LAURA UNGAR “I was teaching them, and worked with Adam Phillip-
AP Science Writer they said, ‘Wait a minute. py of the National Human
Scientists say they have fi- Isn’t this like the sixth time Genome Research Institute
nally assembled the full ge- you guys have declared to organize the team of sci-
netic blueprint for human victory? I said, ‘No, this time entists to start from scratch
life, adding the missing we really, really did it!” with a new genome with
pieces to a puzzle nearly Scientists said this full pic- the aim of sequencing all
completed two decades ture of the genome will of it, including previously
ago. give humanity a greater missing pieces.
An international team de- understanding of our evolu- The group, named after the
scribed the first-ever se- tion and biology while also sections at the very ends
quencing of a complete opening the door to medi- of chromosomes, called
human genome – the set cal discoveries in areas like telomeres, is known as the
of instructions to build and aging, neurodegenerative Telomere-to-Telomere, or
sustain a human being – in conditions, cancer and T2T, consortium.
research published Thurs- heart disease. Their work adds new genet-
day in the journal Science. “We’re just broadening ic information to the human
The previous effort, cel- our opportunities to un- genome, corrects previ-
ebrated across the world, derstand human disease,” ous errors and reveals long
was incomplete because said Karen Miga, an au- stretches of DNA known to
DNA sequencing technol- thor of one of the six studies play important roles in both
ogies of the day weren’t published Thursday. evolution and disease. A
able to read certain parts The research caps off de- version of the research was
of it. Even after updates, cades of work. The first draft published last year before
it was missing about 8% of the human genome was being reviewed by scien-
of the genome. “Some of announced in a White tific peers.
the genes that make us House ceremony in 2000 “This is a major improve-
uniquely human were ac- by leaders of two compet- ment, I would say, of the
tually in this ‘dark matter ing entities: an international Human Genome Project,”
of the genome’ and they publicly funded project led doubling its impact, said
were totally missed,” said by an agency of the U.S. geneticist Ting Wang of
Evan Eichler, a University National Institutes of Health the Washington University
of Washington researcher and a private company, School of Medicine in St.
who participated in the Maryland-based Celera Louis, who was not involved
current effort and the origi- Genomics. in the research.
nal Human Genome Proj- The human genome is Eichler said some scientists
ect. “It took 20-plus years, made up of about 3.1 bil- used to think unknown ar-
but we finally got it done.” lion DNA subunits, pairs of eas contained “junk.” Not
Many including Eichler’s chemical bases known by him. “Some of us always
own students thought it the letters A, C, G and T. believed there was gold in
had been finished already. Genes are strings of these those hills,” he said. Eichler
is paid by the Howard
Hughes Medical Institute,
which also supports The As-
sociated Press’s health and
science department.
Turns out that gold includes
many important genes, he
said, such as ones integral
to making a person’s brain
bigger than a chimp’s,
with more neurons and
connections.q