The significance of DNA sequencing in advancing medicalresearch,improving healthcare practices,and enhancing ourunderstanding of human evolution cannot be overstated.This yearmarks the 20th anniversary of the completi...The significance of DNA sequencing in advancing medicalresearch,improving healthcare practices,and enhancing ourunderstanding of human evolution cannot be overstated.This yearmarks the 20th anniversary of the completion of the Human Genome Project(HGP)in 2003,with the draft human genome reference published in 2001[1,2].However,even with the latesthuman reference genome,GRCh38,there remain gaps totalingapprox.150 Mb,involving complex sequence in the pericentromeric and subtelomeric regions,as well as recent segmentalduplications and both ampliconic gene and ribosomal DNA(rDNA)arrays[3].A groundbreaking achievement was recently accomplished by the Telomere-to-Telomere(T2T)consortium whosuccessfully closed the remaining gaps and completed the firstend-to-end assembly of a human haploid genome,known as T2TCHM13[3].展开更多
基金supported by the National Key R&D Program of China(2022YFC3400300)the National Natural Science Foundation of China(32125009,32070663,32200510,32288101,32030020,and 62172325)the Key Construction Program of the National‘‘985”Project。
文摘The significance of DNA sequencing in advancing medicalresearch,improving healthcare practices,and enhancing ourunderstanding of human evolution cannot be overstated.This yearmarks the 20th anniversary of the completion of the Human Genome Project(HGP)in 2003,with the draft human genome reference published in 2001[1,2].However,even with the latesthuman reference genome,GRCh38,there remain gaps totalingapprox.150 Mb,involving complex sequence in the pericentromeric and subtelomeric regions,as well as recent segmentalduplications and both ampliconic gene and ribosomal DNA(rDNA)arrays[3].A groundbreaking achievement was recently accomplished by the Telomere-to-Telomere(T2T)consortium whosuccessfully closed the remaining gaps and completed the firstend-to-end assembly of a human haploid genome,known as T2TCHM13[3].
