Genome

Homo sapiens (human) Human genome projects have generated an unprecedented amount of knowledge about human genetics and health. Lineage: Eukaryota[15557]; Metazoa[7782]; Chordata[3579]; Craniata[3544]; Vertebrata[3544]; Euteleostomi[3500]; Mammalia[873]; Eutheria[699]; Euarchontoglires[338]; Primates[190]; Haplorrhini[138]; Catarrhini[64]; Hominidae[7]; Homo[1]; Homo sapiens[1]

Study of the human condition such as genetic and infectious disease, the intersection between genetics and the environment, and population variation is supported by a wealth of genome-scale data. These data sets include: a) numerous sequenced genomes including several which have been assembled; b) studies that examine transcript and protein existence, More...abundance, and differential expression; c) epigenomic and functional studies to define regulatory and other sequence elements; and d) population studies to define small and large variations in the genome, transcriptome, proteome, epigenome, or the microbiome. The result is an unprecedented amount of data and knowledge concerning human genetics that will result in breakthroughs in understanding human biology as well as significant medical advances.A challenge facing researchers today is that of analyzing and integrating the plethora of data available. The sequence and other molecular data available provides a critical foundation for continued advances in medicine, basic research, and clinical diagnostic technologies. Less...

Summary Sequence data:  genome assemblies: 1070; sequence reads: 839  (See  Genome Assembly and Annotation report) Statistics:  median total length (Mb): 2865.36  median protein count: 87306  median GC%: 40.4 NCBI Annotation Release:  110 Publications (limited to 20 most recent records) Increased mutation and gene conversion within human segmental duplications. Vollger MR, et al. Nature 2023 May A draft human pangenome reference. Liao WW, et al. Nature 2023 May Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Hallast P, et al. Nature 2023 Sep The complete sequence of a human genome. Nurk S, et al. Science 2022 Apr Semi-automated assembly of high-quality diploid human reference genomes. Jarvis ED, et al. Nature 2022 Nov The CRCbiome study: a large prospective cohort study examining the role of lifestyle and the gut microbiome in colorectal cancer screening participants. Kværner AS, et al. BMC Cancer 2021 Aug 18 Establishment of an eHAP1 human haploid cell line hybrid reference genome assembled from short and long reads. Law WD, et al. Genomics 2020 May Ultralow-input single-tube linked-read library method enables short-read second-generation sequencing systems to routinely generate highly accurate and economical long-range sequencing information. Chen Z, et al. Genome Res 2020 Jun Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Wenger AM, et al. Nat Biotechnol 2019 Oct Epigenetic Coactivation of MAGEA6 and CT-GABRA3 Defines Orientation of a Segmental Duplication in the Human X Chromosome. Fain JS, et al. Cytogenet Genome Res 2019 De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations. Wong KHY, et al. Nat Commun 2018 Aug 2 Long-read sequencing and de novo assembly of a Chinese genome. Shi L, et al. Nat Commun 2016 Jun 30 De novo assembly and phasing of a Korean human genome. Seo JS, et al. Nature 2016 Oct 13 Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region. Mohajeri K, et al. Genome Res 2016 Nov Assessing structural variation in a personal genome-towards a human reference diploid genome. English AC, et al. BMC Genomics 2015 Apr 11 Assembling large genomes with single-molecule sequencing and locality-sensitive hashing. Berlin K, et al. Nat Biotechnol 2015 Jun Assembly and diploid architecture of an individual human genome via single-molecule technologies. Pendleton M, et al. Nat Methods 2015 Aug Centromere reference models for human chromosomes X and Y satellite arrays. Miga KH, et al. Genome Res 2014 Apr Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Antonacci F, et al. Nat Genet 2014 Dec Single haplotype assembly of the human genome from a hydatidiform mole. Steinberg KM, et al. Genome Res 2014 Dec More...  Representative (genome information for reference and representative genomes) Reference genome:   Homo sapiens GRCh38.p14 Submitter: Genome Reference Consortium Loc Type Name RefSeq INSDC Size (Mb) GC% Protein rRNA tRNA Other RNA Gene Pseudogene Chr 1 NC_000001.11 CM000663.2 248.96 42.3 12,777 17 85 4,384 5,485 1,458 Chr 2 NC_000002.12 CM000664.2 242.19 40.3 9,451 - 8 3,785 4,213 1,238 Chr 3 NC_000003.12 CM000665.2 198.3 39.7 8,323 - 4 2,736 3,241 941 Chr 4 NC_000004.12 CM000666.2 190.22 38.3 5,384 - 1 2,305 2,688 830 Chr 5 NC_000005.10 CM000667.2 181.54 39.5 5,527 - 18 2,415 2,851 802 Chr 6 NC_000006.12 CM000668.2 170.81 39.6 6,161 - 154 2,732 3,298 927 Chr 7 NC_000007.14 CM000669.2 159.35 40.7 5,857 - 22 2,570 3,019 935 Chr 8 NC_000008.11 CM000670.2 145.14 40.2 4,651 - 5 2,112 2,388 688 Chr 9 NC_000009.12 CM000671.2 138.4 42.3 5,495 - 2 2,338 2,470 751 Chr 10 NC_000010.11 CM000672.2 133.8 41.6 6,080 - 3 2,135 2,368 662 Chr 11 NC_000011.10 CM000673.2 135.09 41.6 7,493 - 13 2,397 3,129 860 Chr 12 NC_000012.12 CM000674.2 133.28 40.8 6,948 - 9 2,417 2,762 718 Chr 13 NC_000013.11 CM000675.2 114.36 40.2 2,508 - 4 1,289 1,512 483 Chr 14 NC_000014.9 CM000676.2 107.04 42.2 3,999 - 19 1,699 2,182 603 Chr 15 NC_000015.10 CM000677.2 101.99 43.4 4,346 - 9 1,766 1,963 589 Chr 16 NC_000016.10 CM000678.2 90.34 45.1 5,294 - 26 1,710 2,099 496 Chr 17 NC_000017.11 CM000679.2 83.26 45.3 7,131 - 33 2,110 2,651 594 Chr 18 NC_000018.10 CM000680.2 80.37 39.8 2,526 - 1 969 1,091 308 Chr 19 NC_000019.10 CM000681.2 58.62 47.9 7,604 - 7 1,991 2,619 539 Chr 20 NC_000020.11 CM000682.2 64.44 43.9 3,178 - - 1,322 1,460 350 Chr 21 NC_000021.9 CM000683.2 46.71 42.2 1,456 12 1 679 827 217 Chr 22 NC_000022.11 CM000684.2 50.82 47.7 2,773 - 1 934 1,258 369 Chr X NC_000023.11 CM000685.2 156.04 39.6 4,323 - 4 1,299 2,327 932 Chr Y NC_000024.10 CM000686.2 57.23 45.4 372 - - 309 589 398 MT NC_012920.1 J01415.2 0.02 44.4 13 2 22 - 37 - Un - . - 210.14 44.1 8,530 50 240 4,870 8,480 2,525 Chromosomes Click on chromosome name to open Genome Data Viewer External Resources ENCODE GOLD HUGO Gene Nomenclature Committee (HGNC) MGC