Finishing the euchromatic sequence of the human genome

  title={Finishing the euchromatic sequence of the human genome},
  author={International Human Genome Sequencing Consortium},
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome… 

The complete sequence of a human genome

The Telomere-to-Telomere (T2T) Consortium has finished the first truly complete 3.055 billion base pair sequence of a human genome, representing the largest improvement to the human reference genome since its initial release.

The human genome and its upcoming dynamics.

It becomes increasingly evident, that the concept of genome plasticity has to be extended from seemingly fixed human segmental duplications to interindividual, large-scale structural polymorphisms.

The DNA sequence, annotation and analysis of human chromosome 3

Using genomic sequence from chimpanzee and rhesus macaque, the breakpoints defining a large pericentric inversion that occurred some time after the split of Homininae from Ponginae are characterized and an evolutionary history of the inversion is proposed.

Finishing the finished human chromosome 22 sequence

This work has used a combination of conventional chromosome walking in fosmid and bacterial artificial chromosome libraries, whole chromosome shotgun sequencing, comparative genome analysis and long PCR to finish 8 of the 11 gaps in the initial chromosome 22 sequence.

Using population admixture to help complete maps of the human genome

This work mapped the locations of 70 scaffolds spanning 4 million base pairs of the human genome's unplaced euchromatic sequence, including more than a dozen protein-coding genes, and identified 8 new large interchromosomal segmental duplications.

Using comparative genomics to reorder the human genome sequence into a virtual sheep genome

It is demonstrated that limited sequencing of BACs combined with positioning on a well assembled genome and integrating locations from other less well assembled genomes can yield extensive, detailed subgene-level maps of mammalian genomes, for which genomic resources are currently limited.

The DNA sequence and biological annotation of human chromosome 1

The finished sequence and biological annotation of human chromosome 1 is reported, which reveals patterns of sequence variation that reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident.

Identical repeated backbone of the human genome

The IRB offers new insight into the complex organization of the identical repeated sequences of the human genome and provides an accurate map of potential NAHR sites which could be used in targeting the study of novel CNVs, predicting DNA copy-number variation in newly sequenced genomes, and improve genome annotation.

Scanning the human genome at kilobase resolution.

The development of the DGS (Ditag Genome Scanning) technique for high-resolution analysis of genome structure is reported, showing that DGS provides a kilobase resolution for studying genome structure with high specificity and high genome coverage.