The Compleat Human Genome

Lander ES , Linton LM , Birren B , et al. Initial sequencing and analysis of the human genome. Nature. 2001; 409:860–921. DOI: 10.1038/35057062.

Venter JC , Adams M , Myers E , et al. The sequence of the human genome. Science. 2001; 291:1304–1351. DOI: 10.1126/science.1058040.

The International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature. 2004; 431:931–945. DOI: 10.1038/nature03001.

Miga KH , Koren S , Rhie A , et al. Telomere-to-telomere assembly of a complete human X chromosome. Nature. 2020; 585:79–84. DOI: 10.1038/s41586-020-2547-7.

Logsdon GA , Vollger MR , Hsieh P , et al. The structure, function and evolution of a complete human chromosome 8. Nature. 2021; 593:101–107. DOI: 10.1038/s41586-021-03420-7.

Nurk S , Koren S , Rhie A , et al. The complete sequence of a human genome. Science. 2022; 376:44–53. DOI: 10.1126/science.abj6987.

Eichler EE . Masquerading repeats: Paralogous pitfalls of the human genome. Genome Res. 1998; 8:758–762. DOI: 10.1101/gr.8.8.758.

The International HapMap Consortium. A haplotype map of the human genome. Nature. 2005; 437:1299–1320. DOI: 10.1038/nature04226.

The 1000 Genomes Project Consortium; Abecasis GR , Altshuler D , Auton A , et al. A map of human genome variation from population-scale sequencing. Nature. 2020; 467:1061–1073. DOI: 10.1038/nature09534.

Karczewski KJ , Francioli LC , Tiao G , et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020; 581:434–443. DOI: 10.1038/s41586-020-2308-7.

Chakravarti A : Principia Genetica: Our future science. Am J Hum Genet. 2010; 86:302–308. DOI: 10.1016/j.ajhg.2010.01.005.

Ebert P , Audano PA , Zhu Q , et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science. 2021; 372:eabf7117. DOI: 10.1126/science.abf7117.

Childs B. Genetic medicine: A logic of disease. Baltimore, MD: Johns Hopkins University Press 1999.