Scientists in the Telomere-to-Telomere (#T2T) consortium have published the first complete, gapless human genome sequence. This can lead to a better understanding of our genomic variations and provide insight for missing heritability and human disease. genome.gov/T2T
Scientists from all over the world worked to complete the project, including many early-career researchers and trainees! Some of these incredible researchers include:
@HHMINEWS @UCBerkeley @epitopic @roneilllab @uconnresearch @UCDavisNews @ucsc @ucscgenomics @UK_Muenster
@HHMINEWS @UCBerkeley @epitopic @roneilllab @uconnresearch @UCDavisNews @ucsc @ucscgenomics @UK_Muenster
@WWU_Muenster @JHUBME @HopkinsBio
@erichjarvis @giulio_formenti @genomeark
@RockefellerUniv @HHMINEWS @ScienceStowers @JHUBME @HopkinsBio @HopkinsCMDB @JHUCompSci @JohnsHopkins
@erichjarvis @giulio_formenti @genomeark
@RockefellerUniv @HHMINEWS @ScienceStowers @JHUBME @HopkinsBio @HopkinsCMDB @JHUCompSci @JohnsHopkins
@rajivmccoy @mike_schatz @timp0
@StevenSalzberg1 @smyan__ @tlrdln22 @alaina_shumate @s_aganezov @GershmanAriel
@melanie_kirsche @sz_genomics @malonge11 @EichlerEE @glennis_logsdon @mrvollger
@StevenSalzberg1 @smyan__ @tlrdln22 @alaina_shumate @s_aganezov @GershmanAriel
@melanie_kirsche @sz_genomics @malonge11 @EichlerEE @glennis_logsdon @mrvollger
With this completed sequence, #T2T researchers discovered more than 2 million additional variants in the human genome! Future studies will be crucial for explaining how these variants affect our health.
.@Aphillippy, co-chair of #T2T from @genome_gov, believes this kind of research will propel more personalized diagnoses and treatments for diseases.
“In the future, when someone has their genome sequenced, we will be able to identify all of the variants in their DNA and use that information to better guide their healthcare.” - @Aphillippy
This has not been an easy effort. Evan Eichler, co-chair of #T2T from @uw, claimed, “Ever since we had the draft human sequence, determining the exact sequence of complex genomic regions has been challenging. I am thrilled we got the job done.”
Many researchers, including @KHMiga, #T2T co-chair from @ucsc, have developed new technologies for decades to complete this sequence. She said, “Using long-read methods, we have made breakthroughs in our understanding of the most difficult, repeat-rich parts of the human genome.”
“This complete human genome sequence has already provided new insight into genome biology, and I look forward to the next decade of discoveries about these newly revealed regions.” -@KHMiga
Many genomic leaders have commented on how historic this accomplishment is, including researchers who worked on the Human Genome Project, and are leading efforts in precision medicine, health equity and more.
"Having the full T2T sequence will allow us to see regions of the genome’s dark matter that have remained hidden from view. These regions harbor complex DNA variation that could hold clues for diseases that we have long sought but not yet found answers." - @WendyKChung
“It took the invention of new methods of DNA sequencing and computational analysis, and the dedication of a remarkable team of scientists, to complete the reading of the 8% of the human genome that was too complex and repetitive in its structure to be resolved 20 years ago."
It was worth the wait — a rich array of surprising architectural features is revealed, with major consequences for understanding human evolution, variation and biological function.” - Francis Collins
Follow @genome_gov all week as we dive into the amazing work completed by #T2T, explain why the work was so difficult and highlight the amazing scientists that made this happen! genome.gov/T2T
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