PATRICK KEHOE; PHILLIPPY SOURCE PHOTO: NATIONAL HUMAN GENOME RESEARCH INSTITUTE; CANNON-BROOKES: RENEE NOWYTARGER—THE SYDNEY MORNING HERALD/GETTY IMAGESZAUNER: ART PARTNER LICENSING; SCHATZ SOURCE PHOTO: WILL KIRK—JOHNS HOPKINS UNIVERSITY; MIGA SOURCE PHOTO: NICK GONZALES—UC SANTA CRUZ; EICHLER SOURCE PHOTO:
MichaelSchatz, KarenMiga,
Evan Eichler & Adam Phillippy
Decoding the human genome
BY JENNIFER DOUDNA
dousingthedatainhand.
naddition,overcoming
hetechnicalchallenges
ogettingthemissingin-
formationwasn’tpossible
untilrecently.Butthemore
welearnaboutthegenome,
hemoreweunderstand
hateverypieceofthepuz-
zleismeaningful.
I admire the T2T group’s
willingness to grapple with
the technical demands
of this project and their
persistence in expand-
ing the genome map into
uncharted territory. The
complete human genome
sequence is an invaluable
resource that may provide
new insights into the origin
of diseases and how we can
treat them. It also off ers the
most complete look yet at
the genetic script underly-
ing the very nature of who
we are as human beings.
Doudna is a biochemist and
winner of the 2020 Nobel
Prize in Chemistry
Telomere-to- Telomere
Consortium (T2T) of
scientists that they led,
we can see the full map
of the human genomic
landscape—and there’s
much to explore.
In the scientifi c com-
munity, there wasn’t a con-
sensus that mapping these
missing parts was neces-
sary. Some in the fi eld felt
there was already plenty to
Ever since the draft of
the human genome be-
came available in 2001,
there has been a nagging
question about the ge-
nome’s “dark matter”—
the parts of the map that
were missed the fi rst time
through, and what they
contained. Now, thanks
to Michael Schatz, Karen
Miga, Evan Eichler, Adam
Phillippy, and the entire
