317:
31:
282:
156:
200:, as well as their average lengths are relevant parameters, among many others, for a reference genome assembly quality assessment since they provide information about the continuity of the final mapping from the original genome. The smaller the number of scaffolds per chromosome, until a single scaffold occupies an entire chromosome, the greater the continuity of the genome assembly. Other related parameters are
329:, was GRCh38 in 2017. Several patches were added to update it, the latest patch being GRCh38.p14, published on the 3rd of February 2022. This build only has 349 gaps across the entire assembly, which implies a great improvement in comparison with the first version, which had roughly 150,000 gaps. The gaps are mostly in areas such as
208:. N50 is the length of the contigs/scaffolds in which the 50% of the assembly is found in fragments of this length or greater, while L50 is the number of contigs/scaffolds whose length is N50. The higher the value of N50, the lower the value of L50, and vice versa, indicating high continuity in the assembly.
488:
of mice, the reference genome may differ significantly from other individuals. Due to the fact that the reference genome is a "single" distinct sequence, which gives its utility as an index or locator of genomic features, there are limitations in terms of how faithfully it represents the human genome
188:
cloning. Filling these gaps is not always possible, in this case multiple scaffolds are created in a reference assembly. Scaffolds are classified in 3 types: 1) Placed, whose chromosome, genomic coordinates and orientations are known; 2) Unlocalised, when only the chromosome is known but not the
353:
In 2022, the
Telomere-to-Telomere (T2T) Consortium, an open, community-based effort, published the first completely assembled reference genome (version T2T-CHM13), without any gaps in the assembly. It did not contain a Y-chromosome until version 2.0. This assembly allows for the examination of
1993:
Altemose, Nicolas; Logsdon, Glennis A.; Bzikadze, Andrey V.; Sidhwani, Pragya; Langley, Sasha A.; Caldas, Gina V.; Hoyt, Savannah J.; Uralsky, Lev; Ryabov, Fedor D.; Shew, Colin J.; Sauria, Michael E. G.; Borchers, Matthew; Gershman, Ariel; Mikheenko, Alla; Shepelev, Valery A. (April 2022).
2109:
Steinberg, Karyn Meltz; Schneider, Valerie A.; Graves-Lindsay, Tina A.; Fulton, Robert S.; Agarwala, Richa; Huddleston, John; Shiryev, Sergey A.; Morgulis, Aleksandr; Surti, Urvashi; Warren, Wesley C.; Church, Deanna M.; Eichler, Evan E.; Wilson, Richard K. (December 2014).
349:
still accounts for 70% of the reference genome. Genomic analysis of this anonymous male suggests that he is of
African-European ancestry. According to the GRC website, their next assembly release for the human genome (version GRCh39) is currently "indefinitely postponed".
320:
Chromosomes ideogram of the human reference genome assembly GRCh38/hg38. Characteristic bands patterns are displayed in black, grey and white, while the gaps and partially assembled regions are displayed in blue and rose, respectively. Reference: Genome Data Viewer of the
354:
centromeric and pericentromeric sequence evolution. The consortium employed rigorous methods to assemble, clean, and validate complex repeat regions which are particularly difficult to sequence. It used ultra-long–read (>100 kb) sequencing to accurately sequence
761:, which started in 2018 and aims to sequence and catalog the genomes of all the eukaryotic organisms on Earth to promote biodiversity conservation projects. Inside this big-science project there are up to 50 smaller-scale affiliated projects such as the
548:, which started its initial phase in 2019 with the creation of the Human Pangenome Reference Consortium, seeks to create the largest map of human genetic variability taking the results of previous studies as a starting point.
528:, carried out between 2008 and 2015, with the aim of creating a database that includes more than 95% of the variations present in the human genome and whose results can be used in studies of association with diseases (
167:
in the complete process of sequencing and assembly of a reference genome. The gap between contig 1 and 2 is indicated as sequenced, forming a scaffold, while the other gap is not sequenced and separates scaffold 1 and
497:
assembling genomes from
African and Asian populations with the NCBI reference genome (version NCBI36), these genomes had ~5Mb sequences that did not align against any region of the reference genome.
500:
Following projects to the Human Genome
Project seek to address a deeper and more diverse characerization of the human genetic variability, which the reference genome is not able to represent. The
532:) such as diabetes, cardiovascular or autoimmune diseases. A total of 26 ethnic groups were studied in this project, expanding the scope of the HapMap project to new ethnic groups such as the
262:
and donate blood from which DNA was extracted. As a result of how the DNA samples were processed, about 80 percent of the reference genome came from eight people and one male, designated
645:
Since the Human Genome
Project was finished, multiple international projects have started, focused on assembling reference genomes for many organisms. Model organisms (e.g., zebrafish (
309:
differences, while about 1.4 percent of his DNA could not be matched to the reference genome at all. For regions where there is known to be large-scale variation, sets of alternate
373:. A hydatidiform mole contains two copies of the same parental genome, and thus is essentially haploid. This eliminates allelic variation and allows better sequencing accuracy.
766:
762:
545:
100:. Reference genomes are typically used as a guide on which new genomes are built, enabling them to be assembled much more quickly and cheaply than the initial
1256:
Mende, Daniel R.; Waller, Alison S.; Sunagawa, Shinichi; Järvelin, Aino I.; Chan, Michelle M.; Arumugam, Manimozhiyan; Raes, Jeroen; Bork, Peer (2012-02-23).
508:
map and their most common variations among different human populations. Up to 11 populations of different ancestry were studied, such as individuals of the
143:. It is usually constructed by layering sequencing information over a physical map to combine scaffold information. It is a 'best estimate' of what the
2194:
MHC Sequencing
Consortium (October 1999). "Complete sequence and gene map of a human major histocompatibility complex. The MHC sequencing consortium".
676:)). As of August 2022, the NCBI database supports 71 886 partially or completely sequenced and assembled genomes from different species, such as 676
240:. GRC continues to improve reference genomes by building new alignments that contain fewer gaps, and fixing misrepresentations in the sequence.
341:, with the biggest gap along the long arm of the Y chromosome, a region of ~30 Mb in length (~52% of the Y chromosome's length). The number of
225:
369:". The cell line has been transfected with the TERT gene, which is responsible for maintaining telomere length and thus contributes to the
493:. Most of the initial samples used for reference genome sequencing came from people of European ancestry. In 2010, it was found that, by
1189:
Cao, Minh Duc; Nguyen, Son Hoang; Ganesamoorthy, Devika; Elliott, Alysha G.; Cooper, Matthew A.; Coin, Lachlan J. M. (2017-02-20).
258:, on Sunday, March 23, 1997. The first ten male and ten female volunteers were invited to make an appointment with the project's
2933:
882:
476:
For much of a genome, the reference provides a good approximation of the DNA of any single individual. But in regions with high
2313:
1440:
966:
663:
etc.) are of special interest to the scientific community, as well as, for example, endangered species (e.g., Asian arowana (
2329:
Li R, Li Y, Zheng H, Luo R, Zhu H, Li Q, et al. (January 2010). "Building the sequence map of the human pan-genome".
70:
mosaic of different DNA sequences from each donor. For example, one of the most recent human reference genomes, assembly
1733:"Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly"
712:. A lot of these species have annotation data associated with their reference genomes that can be publicly accessed and
740:
237:
3148:"African BioGenome Project – Genomics in the service of conservation and improvement of African biological diversity"
221:
481:
366:
205:
201:
1053:
717:
185:
66:
do not accurately represent the set of genes of any single individual organism. Instead, a reference provides a
790:
306:
1707:
529:
1006:
Luo, Junwei; Wei, Yawei; Lyu, Mengna; Wu, Zhengjiang; Liu, Xiaoyan; Luo, Huimin; Yan, Chaokun (2021-09-02).
750:
501:
181:
1135:
326:
316:
302:
217:
2986:
1805:
365:. "CHM" stands for "Complete Hydatidiform Mole," and "13" is its line number. "hTERT" stands for "human
736:
275:
233:
2486:
Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, et al. (September 2010).
220:(GRC), a group of fewer than 20 scientists from a number of genome research institutes, including the
728:
305:. Comparison between the reference (assembly NCBI36/hg18) and Watson's genome revealed 3.3 million
297:
technologies emerge, more genome sequences continue to be generated. In several cases people such as
2738:
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, et al. (October 2015).
2624:
Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, et al. (November 2012).
3208:
3011:
Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, et al. (July 2013).
1384:"U50: A New Metric for Measuring Assembly Output Based on Non-Overlapping, Target-Specific Contigs"
753:, which started in 2012 with the main goal of creating a database of reference genomes for 100 000
345:
contributing to the reference has increased steadily to >60 over the years, although individual
1077:
Meader, Stephen; Hillier, LaDeana W.; Locke, Devin; Ponting, Chris P.; Lunter, Gerton (May 2010).
147:
will look like and typically includes gaps, making it longer than the typical base pair assembly.
104:. Reference genomes can be accessed online at several locations, using dedicated browsers such as
34:
The first printout of the human reference genome presented as a series of books, displayed at the
3228:
3223:
3218:
3167:
2844:
Wang T, Antonacci-Fulton L, Howe K, Lawson HA, Lucas JK, Phillippy AM, et al. (April 2022).
758:
490:
338:
58:
in one idealized individual organism of a species. As they are assembled from the sequencing of
3088:
Lewin HA, Robinson GE, Kress WJ, Baker WJ, Coddington J, Crandall KA, et al. (April 2018).
2567:
Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, et al. (October 2010).
2543:
485:
370:
294:
267:
140:
17:
757:
microorganisms to use in public health, outbreaks detection, agriculture and environment; the
3193:
1880:
1613:
51:
2681:
Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, et al. (October 2015).
128:
A simple way to measure genome length is to count the number of base pairs in the assembly.
3101:
3024:
2857:
2751:
2694:
2637:
2580:
2499:
2442:
2429:
Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, et al. (October 2007).
2385:
2258:
2203:
2067:
1917:
1904:
Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, et al. (April 2022).
1731:
Schneider VA, Graves-Lindsay T, Howe K, Bouk N, Chen HC, Kitts PA, et al. (May 2017).
1654:
1563:
1269:
1202:
525:
101:
8:
2909:
1969:
1829:
1780:
1641:
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, et al. (April 2008).
1151:
721:
109:
35:
3105:
3028:
2861:
2812:
2755:
2698:
2641:
2584:
2503:
2446:
2389:
2262:
2207:
2170:
2071:
1921:
1658:
1567:
1273:
1206:
248:
The original human reference genome was derived from thirteen anonymous volunteers from
3124:
3089:
3045:
3012:
2891:
2878:
2845:
2821:
2796:
2772:
2739:
2715:
2682:
2658:
2625:
2601:
2568:
2520:
2487:
2463:
2430:
2406:
2373:
2354:
2281:
2246:
2227:
2144:
2111:
2028:
1995:
1951:
1938:
1905:
1757:
1732:
1694:
1586:
1551:
1527:
1500:
1408:
1383:
1359:
1324:
1300:
1257:
1233:
1190:
1171:
1111:
1078:
841:
816:
815:
Flicek P, Aken BL, Beal K, Ballester B, Caccamo M, Chen Y, et al. (January 2008).
259:
177:
2055:
929:
3213:
3129:
3050:
2941:
2895:
2883:
2826:
2777:
2720:
2663:
2606:
2525:
2468:
2411:
2358:
2346:
2309:
2286:
2231:
2219:
2149:
2131:
2091:
2083:
2033:
2015:
1955:
1943:
1762:
1672:
1591:
1532:
1481:
1436:
1413:
1364:
1346:
1305:
1287:
1238:
1220:
1163:
1155:
1116:
1098:
1035:
1027:
962:
890:
846:
537:
249:
1258:"Assessment of Metagenomic Assembly Using Simulated Next Generation Sequencing Data"
1191:"Scaffolding and completing genome assemblies in real-time with nanopore sequencing"
1175:
361:
The T2T-CHM13 is sequenced from CHM13hTERT, a cell line from an essentially haploid
3119:
3109:
3040:
3032:
2873:
2865:
2816:
2808:
2767:
2759:
2710:
2702:
2653:
2645:
2596:
2588:
2515:
2507:
2458:
2450:
2401:
2393:
2338:
2276:
2266:
2211:
2139:
2123:
2075:
2023:
2007:
1933:
1925:
1752:
1744:
1662:
1581:
1571:
1522:
1512:
1471:
1403:
1395:
1354:
1336:
1295:
1277:
1228:
1210:
1147:
1106:
1090:
1079:"Genome assembly quality: Assessment and improvement using the neutral indel model"
1019:
836:
828:
659:
355:
310:
254:
229:
2271:
1690:
1576:
1282:
732:
521:
513:
362:
342:
298:
77:
3094:
Proceedings of the
National Academy of Sciences of the United States of America
2869:
672:
653:
290:
1517:
1341:
911:
864:
791:"How many individuals were sequenced for the human reference genome assembly?"
3202:
2135:
2087:
2019:
1350:
1291:
1224:
1159:
1102:
1031:
665:
517:
3114:
3069:"100K Pathogen Genome Project – Genomes for Public Health & Food Safety"
2488:"Integrating common and rare genetic variation in diverse human populations"
2079:
2011:
1929:
1007:
3133:
3054:
2887:
2830:
2781:
2724:
2667:
2610:
2529:
2472:
2415:
2350:
2290:
2223:
2153:
2095:
2037:
1947:
1766:
1676:
1643:"The complete genome of an individual by massively parallel DNA sequencing"
1595:
1536:
1485:
1417:
1368:
1309:
1242:
1167:
1120:
1039:
850:
533:
30:
2127:
1748:
1476:
1459:
1399:
1094:
1023:
2846:"The Human Pangenome Project: a global resource to map genomic diversity"
832:
509:
216:
The human and mouse reference genomes are maintained and improved by the
197:
164:
135:
is an alternative measure of length that omits redundant regions such as
3036:
2962:
2763:
2706:
2649:
2592:
2511:
2454:
2397:
2112:"Single haplotype assembly of the human genome from a hydatidiform mole"
1667:
1642:
1215:
189:
coordinates or orientation; 3) Unplaced, whose chromosome is not known.
155:
982:
745:
334:
271:
2108:
504:, active during the period 2002 -2010, with the purpose of creating a
270:
differs among humans, but the human reference genome contains only an
2342:
2247:"Species specificity in major urinary proteins by parallel evolution"
1552:"Limitations of the human reference genome for personalized genomics"
647:
505:
477:
136:
54:
database, assembled by scientists as a representative example of the
2245:
Logan DW, Marton TF, Stowers L (September 2008). Vosshall LB (ed.).
285:
Evolution of the cost of sequencing a human genome from 2001 to 2021
2371:
1856:
754:
701:
541:
330:
125:
The length of a genome can be measured in multiple different ways.
85:
2740:"An integrated map of structural variation in 2,504 human genomes"
2569:"A map of human genome variation from population-scale sequencing"
2431:"A second generation human haplotype map of over 3.1 million SNPs"
2215:
1830:"GRCh38.p14 - hg38 - Genome - Assembly - NCBI - Statistics Report"
1325:"A comparative evaluation of genome assembly reconciliation tools"
1323:
Alhakami, Hind; Mirebrahim, Hamid; Lonardi, Stefano (2017-05-18).
1008:"A comprehensive review of scaffolding methods in genome assembly"
743:, which generated the first reference genomes for 4 subspecies of
281:
3090:"Earth BioGenome Project: Sequencing life for the future of life"
2626:"An integrated map of genetic variation from 1,092 human genomes"
709:
105:
97:
81:
67:
3147:
184:, either by contigs amplification with PCR and sequencing or by
172:
Reference genomes assembly requires reads overlapping, creating
2485:
1992:
1730:
930:"Whole assembly vs Golden path length in Ensembl? - SEQanswers"
693:
689:
677:
193:
173:
160:
144:
93:
89:
72:
63:
55:
2843:
2737:
1188:
983:"Help - Glossary - Homo_sapiens - Ensembl genome browser 107"
705:
697:
2566:
912:"Help - Glossary - Homo sapiens - Ensembl genome browser 87"
865:"Help - Glossary - Homo sapiens - Ensembl genome browser 87"
325:
The latest human reference genome assembly, released by the
180:. If there are gaps between contigs, these can be filled by
3068:
3010:
2623:
1996:"Complete genomic and epigenetic maps of human centromeres"
1803:
1640:
1255:
685:
681:
2680:
2308:. Chemical Signals in Vertebrates 11. Springer New York.
2304:
Hurst J, Beynon RJ, Roberts SC, Wyatt TD (October 2007).
2193:
1322:
1076:
59:
3087:
2428:
2306:
Urinary
Lipocalins in Rodenta:is there a Generic Model?
2303:
1903:
814:
727:
Some examples of these international projects are: the
1382:
Castro, Christina J.; Ng, Terry Fei Fan (2017-11-01).
80:. There are reference genomes for multiple species of
3013:"Great ape genetic diversity and population history"
2372:
1136:"New Approaches for Genome Assembly and Scaffolding"
2797:"The Need for a Human Pangenome Reference Sequence"
1549:
731:, carried out between 2005 and 2013 jointly by the
2244:
1498:
115:
1550:Rosenfeld JA, Mason CE, Smith TM (11 July 2012).
1134:Rice, Edward S.; Green, Richard E. (2019-02-15).
3200:
2683:"A global reference for human genetic variation"
961:(3rd ed.). Sinauer Associates. p. 84.
556:Recent mouse genome assemblies are as follows:
1781:"GRCh38.p14 - hg38 - Genome - Assembly - NCBI"
62:from a number of individual donors, reference
1499:Ballouz S, Dobin A, Gillis JA (August 2019).
313:are assembled alongside the reference locus.
226:National Center for Biotechnology Information
2801:Annual Review of Genomics and Human Genetics
2328:
2297:
1693:whose DNA was sequenced and assembled using
1501:"Is it time to change the reference genome?"
1454:
1452:
266:, accounts for 66 percent of the total. The
252:. Donors were recruited by advertisement in
1005:
1970:"T2T-CHM13v2.0 - Genome - Assembly - NCBI"
1804:Genome Reference Consortium (2022-05-09).
1543:
956:
952:
950:
688:. Also noteworthy are the numbers of 1796
3123:
3113:
3044:
2877:
2820:
2771:
2714:
2657:
2600:
2519:
2462:
2405:
2280:
2270:
2143:
2056:"A next-generation human genome sequence"
2027:
1937:
1906:"The complete sequence of a human genome"
1756:
1666:
1636:
1634:
1585:
1575:
1526:
1516:
1475:
1449:
1407:
1358:
1340:
1299:
1281:
1232:
1214:
1133:
1110:
840:
785:
783:
781:
551:
376:Recent genome assemblies are as follows:
243:
2794:
1806:"GenomeRef: GRCh38.p14 is now released!"
1381:
315:
280:
154:
150:
29:
1430:
957:Gibson, Greg; Muse, Spencer V. (2009).
947:
14:
3201:
2053:
1631:
1607:
1605:
1492:
808:
778:
176:, which are contiguous DNA regions of
159:Diagram of reads arrangement, forming
27:Digital nucleic acid sequence database
2374:"A haplotype map of the human genome"
2238:
2187:
2165:
2163:
2049:
2047:
1851:
1849:
1614:"Genome of DNA Pioneer Is Deciphered"
1424:
186:Bacterial Artificial Chromosome (BAC)
120:
1611:
1152:10.1146/annurev-animal-020518-115344
1054:"Chromosomes, scaffolds and contigs"
211:
2813:10.1146/annurev-genom-120120-081921
1602:
1140:Annual Review of Animal Biosciences
24:
2160:
2044:
1846:
741:Washington University in St. Louis
301:had their genome assembled using
238:Washington University in St. Louis
25:
3240:
3187:
2171:"UCSC Genome Bioinformatics: FAQ"
1433:A short guide to the human genome
883:"Golden path length | VectorBase"
222:European Bioinformatics Institute
2054:Church, Deanna M. (April 2022).
1388:Journal of Computational Biology
640:
482:major histocompatibility complex
367:Telomerase Reverse Transcriptase
163:and these can be assembled into
3160:
3140:
3081:
3061:
3004:
2979:
2955:
2926:
2902:
2837:
2795:Miga KH, Wang T (August 2021).
2788:
2731:
2674:
2617:
2560:
2536:
2479:
2422:
2365:
2322:
2102:
1986:
1962:
1897:
1873:
1822:
1797:
1773:
1724:
1700:
1683:
1375:
1316:
1249:
1182:
1127:
1070:
1046:
716:zed in genome browsers such as
303:massive parallel DNA sequencing
116:Properties of reference genomes
2544:"International HapMap Project"
999:
975:
922:
904:
875:
857:
471:
307:single nucleotide polymorphism
13:
1:
3168:"1000 Fungal Genomes Project"
2963:"GenArk: UCSC Genome Archive"
2910:"Genome List - Genome - NCBI"
1857:"Genome Reference Consortium"
827:(Database issue): D707–D714.
772:
2272:10.1371/journal.pone.0003280
1577:10.1371/journal.pone.0040294
1283:10.1371/journal.pone.0031386
751:100K Pathogen Genome Project
7:
3194:Genome Reference Consortium
2987:"Chimpanzee Genome Project"
1708:"Genome Data Viewer - NCBI"
1435:. CSHL Press. p. 135.
1012:Briefings in Bioinformatics
795:Genome Reference Consortium
767:1000 Fungal Genomes Project
327:Genome Reference Consortium
218:Genome Reference Consortium
10:
3245:
2870:10.1038/s41586-022-04601-8
959:A Primer of Genome Science
737:McDonnell Genome Institute
274:, although the others are
234:McDonnell Genome Institute
1689:The exception to this is
1518:10.1186/s13059-019-1774-4
1342:10.1186/s13059-017-1213-3
729:Chimpanzee Genome Project
512:ethnic group from China,
76:, is derived from >60
763:Africa BioGenome Project
568:Equivalent UCSC version
388:Equivalent UCSC version
141:pseudo autosomal regions
3115:10.1073/pnas.1720115115
2967:hgdownload.soe.ucsc.edu
2080:10.1126/science.abo5367
2012:10.1126/science.abl4178
1930:10.1126/science.abj6987
1612:Wade N (May 31, 2007).
759:Earth BioGenome Project
670:or the American bison (
546:Human Pangenome Project
520:people from Nigeria or
396:Indefinitely postponed
371:cell line's immortality
343:genomic clone libraries
78:genomic clone libraries
1881:"Telomere-to-Telomere"
821:Nucleic Acids Research
552:Mouse reference genome
486:major urinary proteins
356:segmental duplications
322:
295:full genome sequencing
286:
268:ABO blood group system
244:Human reference genome
169:
39:
2128:10.1101/gr.180893.114
1749:10.1101/gr.213611.116
1477:10.1038/nmeth0510-331
1400:10.1089/cmb.2017.0013
1195:Nature Communications
1095:10.1101/gr.096966.109
536:of Sierra Leone, the
319:
284:
158:
151:Contigs and scaffolds
52:nucleic acid sequence
33:
3172:mycocosm.jgi.doe.gov
2914:www.ncbi.nlm.nih.gov
2331:Nature Biotechnology
1974:www.ncbi.nlm.nih.gov
1861:www.ncbi.nlm.nih.gov
1834:www.ncbi.nlm.nih.gov
1810:GRC Blog (GenomeRef)
1785:www.ncbi.nlm.nih.gov
1712:www.ncbi.nlm.nih.gov
1470:(5): 331. May 2010.
666:Scleropages formosus
526:1000 Genomes Project
524:, among others. The
339:repetitive sequences
102:Human Genome Project
3106:2018PNAS..115.4325L
3037:10.1038/nature12228
3029:2013Natur.499..471P
2862:2022Natur.604..437W
2764:10.1038/nature15394
2756:2015Natur.526...75.
2707:10.1038/nature15393
2699:2015Natur.526...68T
2650:10.1038/nature11632
2642:2012Natur.491...56T
2593:10.1038/nature09534
2585:2010Natur.467.1061T
2579:(7319): 1061–1073.
2512:10.1038/nature09298
2504:2010Natur.467...52T
2455:10.1038/nature06258
2447:2007Natur.449..851F
2398:10.1038/nature04226
2390:2005Natur.437.1299T
2384:(7063): 1299–1320.
2263:2008PLoSO...3.3280L
2208:1999Natur.401..921T
2072:2022Sci...376...34C
1922:2022Sci...376...44N
1668:10.1038/nature06884
1659:2008Natur.452..872W
1568:2012PLoSO...740294R
1274:2012PLoSO...731386M
1216:10.1038/ncomms14515
1207:2017NatCo...814515C
1024:10.1093/bib/bbab033
722:UCSC Genome Browser
178:consensus sequences
110:UCSC Genome Browser
36:Wellcome Collection
2938:uswest.ensembl.org
2006:(6588): eabl4178.
1695:shotgun sequencing
1431:Scherer S (2008).
887:www.vectorbase.org
833:10.1093/nar/gkm988
484:in humans and the
323:
287:
260:genetic counselors
170:
121:Measures of length
48:reference assembly
40:
3100:(17): 4325–4333.
3023:(7459): 471–475.
2856:(7906): 437–446.
2441:(7164): 851–861.
2315:978-0-387-73944-1
2202:(6756): 921–923.
2122:(12): 2066–2076.
1653:(7189): 872–876.
1460:"E pluribus unum"
1442:978-0-87969-791-4
1394:(11): 1071–1080.
968:978-0-878-93236-8
638:
637:
538:Vietnamese people
478:allelic diversity
469:
468:
363:hydatidiform mole
250:Buffalo, New York
212:Mammalian genomes
46:(also known as a
16:(Redirected from
3236:
3182:
3181:
3179:
3178:
3164:
3158:
3157:
3155:
3154:
3144:
3138:
3137:
3127:
3117:
3085:
3079:
3078:
3076:
3075:
3065:
3059:
3058:
3048:
3008:
3002:
3001:
2999:
2998:
2983:
2977:
2976:
2974:
2973:
2959:
2953:
2952:
2950:
2949:
2940:. Archived from
2930:
2924:
2923:
2921:
2920:
2906:
2900:
2899:
2881:
2841:
2835:
2834:
2824:
2792:
2786:
2785:
2775:
2735:
2729:
2728:
2718:
2678:
2672:
2671:
2661:
2621:
2615:
2614:
2604:
2564:
2558:
2557:
2555:
2554:
2540:
2534:
2533:
2523:
2483:
2477:
2476:
2466:
2426:
2420:
2419:
2409:
2369:
2363:
2362:
2343:10.1038/nbt.1596
2326:
2320:
2319:
2301:
2295:
2294:
2284:
2274:
2242:
2236:
2235:
2191:
2185:
2184:
2182:
2181:
2167:
2158:
2157:
2147:
2106:
2100:
2099:
2051:
2042:
2041:
2031:
1990:
1984:
1983:
1981:
1980:
1966:
1960:
1959:
1941:
1901:
1895:
1894:
1892:
1891:
1877:
1871:
1870:
1868:
1867:
1853:
1844:
1843:
1841:
1840:
1826:
1820:
1819:
1817:
1816:
1801:
1795:
1794:
1792:
1791:
1777:
1771:
1770:
1760:
1728:
1722:
1721:
1719:
1718:
1704:
1698:
1687:
1681:
1680:
1670:
1638:
1629:
1628:
1626:
1624:
1609:
1600:
1599:
1589:
1579:
1547:
1541:
1540:
1530:
1520:
1496:
1490:
1489:
1479:
1456:
1447:
1446:
1428:
1422:
1421:
1411:
1379:
1373:
1372:
1362:
1344:
1320:
1314:
1313:
1303:
1285:
1253:
1247:
1246:
1236:
1218:
1186:
1180:
1179:
1131:
1125:
1124:
1114:
1074:
1068:
1067:
1065:
1064:
1050:
1044:
1043:
1003:
997:
996:
994:
993:
979:
973:
972:
954:
945:
944:
942:
941:
926:
920:
919:
908:
902:
901:
899:
898:
889:. Archived from
879:
873:
872:
861:
855:
854:
844:
812:
806:
805:
803:
801:
787:
660:Escherichia coli
565:Date of release
559:
558:
516:from India, the
437:NCBI Build 36.1
385:Date of release
379:
378:
255:The Buffalo News
230:Sanger Institute
44:reference genome
21:
3244:
3243:
3239:
3238:
3237:
3235:
3234:
3233:
3209:Genome projects
3199:
3198:
3190:
3185:
3176:
3174:
3166:
3165:
3161:
3152:
3150:
3146:
3145:
3141:
3086:
3082:
3073:
3071:
3067:
3066:
3062:
3009:
3005:
2996:
2994:
2985:
2984:
2980:
2971:
2969:
2961:
2960:
2956:
2947:
2945:
2932:
2931:
2927:
2918:
2916:
2908:
2907:
2903:
2842:
2838:
2793:
2789:
2750:(7571): 75–81.
2736:
2732:
2693:(7571): 68–74.
2679:
2675:
2636:(7422): 56–65.
2622:
2618:
2565:
2561:
2552:
2550:
2542:
2541:
2537:
2498:(7311): 52–58.
2484:
2480:
2427:
2423:
2370:
2366:
2327:
2323:
2316:
2302:
2298:
2243:
2239:
2192:
2188:
2179:
2177:
2175:genome.ucsc.edu
2169:
2168:
2161:
2116:Genome Research
2107:
2103:
2066:(6588): 34–35.
2052:
2045:
1991:
1987:
1978:
1976:
1968:
1967:
1963:
1916:(6588): 44–53.
1902:
1898:
1889:
1887:
1879:
1878:
1874:
1865:
1863:
1855:
1854:
1847:
1838:
1836:
1828:
1827:
1823:
1814:
1812:
1802:
1798:
1789:
1787:
1779:
1778:
1774:
1737:Genome Research
1729:
1725:
1716:
1714:
1706:
1705:
1701:
1691:J. Craig Venter
1688:
1684:
1639:
1632:
1622:
1620:
1610:
1603:
1548:
1544:
1497:
1493:
1458:
1457:
1450:
1443:
1429:
1425:
1380:
1376:
1321:
1317:
1254:
1250:
1187:
1183:
1132:
1128:
1083:Genome Research
1075:
1071:
1062:
1060:
1058:www.ensembl.org
1052:
1051:
1047:
1004:
1000:
991:
989:
987:www.ensembl.org
981:
980:
976:
969:
955:
948:
939:
937:
928:
927:
923:
916:www.ensembl.org
910:
909:
905:
896:
894:
881:
880:
876:
869:www.ensembl.org
863:
862:
858:
813:
809:
799:
797:
789:
788:
779:
775:
746:Pan troglodytes
733:Broad Institute
643:
554:
522:Japanese people
474:
299:James D. Watson
293:falls, and new
289:As the cost of
246:
214:
153:
123:
118:
50:) is a digital
28:
23:
22:
15:
12:
11:
5:
3242:
3232:
3231:
3229:DNA sequencing
3226:
3224:Bioinformatics
3221:
3219:Human genetics
3216:
3211:
3197:
3196:
3189:
3188:External links
3186:
3184:
3183:
3159:
3139:
3080:
3060:
3003:
2978:
2954:
2934:"Species List"
2925:
2901:
2836:
2787:
2730:
2673:
2616:
2559:
2535:
2478:
2421:
2364:
2321:
2314:
2296:
2237:
2186:
2159:
2101:
2043:
1985:
1961:
1896:
1872:
1845:
1821:
1796:
1772:
1743:(5): 849–864.
1723:
1699:
1682:
1630:
1618:New York Times
1601:
1542:
1505:Genome Biology
1491:
1464:Nature Methods
1448:
1441:
1423:
1374:
1329:Genome Biology
1315:
1248:
1181:
1126:
1089:(5): 675–684.
1069:
1045:
1018:(5): bbab033.
998:
974:
967:
946:
936:. 31 July 2014
934:seqanswers.com
921:
903:
874:
856:
817:"Ensembl 2008"
807:
776:
774:
771:
692:genomes, 3747
642:
639:
636:
635:
632:
629:
628:NCBI Build 34
625:
624:
621:
618:
617:NCBI Build 35
614:
613:
610:
607:
606:NCBI Build 36
603:
602:
599:
596:
595:NCBI Build 37
592:
591:
588:
585:
581:
580:
577:
574:
570:
569:
566:
563:
553:
550:
542:Bengali people
502:HapMap Project
480:, such as the
473:
470:
467:
466:
463:
460:
459:NCBI Build 34
456:
455:
452:
449:
448:NCBI Build 35
445:
444:
441:
438:
434:
433:
430:
427:
423:
422:
419:
416:
412:
411:
408:
405:
401:
400:
397:
394:
390:
389:
386:
383:
291:DNA sequencing
245:
242:
213:
210:
192:The number of
152:
149:
122:
119:
117:
114:
26:
9:
6:
4:
3:
2:
3241:
3230:
3227:
3225:
3222:
3220:
3217:
3215:
3212:
3210:
3207:
3206:
3204:
3195:
3192:
3191:
3173:
3169:
3163:
3149:
3143:
3135:
3131:
3126:
3121:
3116:
3111:
3107:
3103:
3099:
3095:
3091:
3084:
3070:
3064:
3056:
3052:
3047:
3042:
3038:
3034:
3030:
3026:
3022:
3018:
3014:
3007:
2992:
2988:
2982:
2968:
2964:
2958:
2944:on 2022-08-06
2943:
2939:
2935:
2929:
2915:
2911:
2905:
2897:
2893:
2889:
2885:
2880:
2875:
2871:
2867:
2863:
2859:
2855:
2851:
2847:
2840:
2832:
2828:
2823:
2818:
2814:
2810:
2807:(1): 81–102.
2806:
2802:
2798:
2791:
2783:
2779:
2774:
2769:
2765:
2761:
2757:
2753:
2749:
2745:
2741:
2734:
2726:
2722:
2717:
2712:
2708:
2704:
2700:
2696:
2692:
2688:
2684:
2677:
2669:
2665:
2660:
2655:
2651:
2647:
2643:
2639:
2635:
2631:
2627:
2620:
2612:
2608:
2603:
2598:
2594:
2590:
2586:
2582:
2578:
2574:
2570:
2563:
2549:
2545:
2539:
2531:
2527:
2522:
2517:
2513:
2509:
2505:
2501:
2497:
2493:
2489:
2482:
2474:
2470:
2465:
2460:
2456:
2452:
2448:
2444:
2440:
2436:
2432:
2425:
2417:
2413:
2408:
2403:
2399:
2395:
2391:
2387:
2383:
2379:
2375:
2368:
2360:
2356:
2352:
2348:
2344:
2340:
2336:
2332:
2325:
2317:
2311:
2307:
2300:
2292:
2288:
2283:
2278:
2273:
2268:
2264:
2260:
2256:
2252:
2248:
2241:
2233:
2229:
2225:
2221:
2217:
2216:10.1038/44853
2213:
2209:
2205:
2201:
2197:
2190:
2176:
2172:
2166:
2164:
2155:
2151:
2146:
2141:
2137:
2133:
2129:
2125:
2121:
2117:
2113:
2105:
2097:
2093:
2089:
2085:
2081:
2077:
2073:
2069:
2065:
2061:
2057:
2050:
2048:
2039:
2035:
2030:
2025:
2021:
2017:
2013:
2009:
2005:
2001:
1997:
1989:
1975:
1971:
1965:
1957:
1953:
1949:
1945:
1940:
1935:
1931:
1927:
1923:
1919:
1915:
1911:
1907:
1900:
1886:
1882:
1876:
1862:
1858:
1852:
1850:
1835:
1831:
1825:
1811:
1807:
1800:
1786:
1782:
1776:
1768:
1764:
1759:
1754:
1750:
1746:
1742:
1738:
1734:
1727:
1713:
1709:
1703:
1696:
1692:
1686:
1678:
1674:
1669:
1664:
1660:
1656:
1652:
1648:
1644:
1637:
1635:
1619:
1615:
1608:
1606:
1597:
1593:
1588:
1583:
1578:
1573:
1569:
1565:
1562:(7): e40294.
1561:
1557:
1553:
1546:
1538:
1534:
1529:
1524:
1519:
1514:
1510:
1506:
1502:
1495:
1487:
1483:
1478:
1473:
1469:
1465:
1461:
1455:
1453:
1444:
1438:
1434:
1427:
1419:
1415:
1410:
1405:
1401:
1397:
1393:
1389:
1385:
1378:
1370:
1366:
1361:
1356:
1352:
1348:
1343:
1338:
1334:
1330:
1326:
1319:
1311:
1307:
1302:
1297:
1293:
1289:
1284:
1279:
1275:
1271:
1268:(2): e31386.
1267:
1263:
1259:
1252:
1244:
1240:
1235:
1230:
1226:
1222:
1217:
1212:
1208:
1204:
1200:
1196:
1192:
1185:
1177:
1173:
1169:
1165:
1161:
1157:
1153:
1149:
1145:
1141:
1137:
1130:
1122:
1118:
1113:
1108:
1104:
1100:
1096:
1092:
1088:
1084:
1080:
1073:
1059:
1055:
1049:
1041:
1037:
1033:
1029:
1025:
1021:
1017:
1013:
1009:
1002:
988:
984:
978:
970:
964:
960:
953:
951:
935:
931:
925:
917:
913:
907:
893:on 2020-08-07
892:
888:
884:
878:
870:
866:
860:
852:
848:
843:
838:
834:
830:
826:
822:
818:
811:
796:
792:
786:
784:
782:
777:
770:
768:
764:
760:
756:
752:
748:
747:
742:
738:
734:
730:
725:
723:
719:
715:
711:
707:
703:
699:
695:
691:
687:
683:
679:
675:
674:
669:
667:
662:
661:
656:
655:
654:Gallus gallus
650:
649:
641:Other genomes
633:
630:
627:
626:
622:
619:
616:
615:
611:
608:
605:
604:
600:
597:
594:
593:
589:
586:
583:
582:
578:
575:
572:
571:
567:
564:
562:Release name
561:
560:
557:
549:
547:
543:
539:
535:
531:
527:
523:
519:
515:
511:
507:
503:
498:
496:
492:
487:
483:
479:
464:
461:
458:
457:
453:
450:
447:
446:
442:
439:
436:
435:
431:
428:
425:
424:
420:
417:
414:
413:
409:
407:January 2022
406:
403:
402:
398:
395:
392:
391:
387:
384:
382:Release name
381:
380:
377:
374:
372:
368:
364:
359:
357:
351:
348:
344:
340:
336:
332:
328:
318:
314:
312:
308:
304:
300:
296:
292:
283:
279:
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269:
265:
261:
257:
256:
251:
241:
239:
235:
231:
227:
223:
219:
209:
207:
203:
199:
195:
190:
187:
183:
179:
175:
166:
162:
157:
148:
146:
142:
138:
134:
129:
126:
113:
111:
107:
103:
99:
95:
91:
87:
83:
79:
75:
74:
69:
65:
61:
57:
53:
49:
45:
37:
32:
19:
3175:. Retrieved
3171:
3162:
3151:. Retrieved
3142:
3097:
3093:
3083:
3072:. Retrieved
3063:
3020:
3016:
3006:
2995:. Retrieved
2993:. 2016-03-04
2990:
2981:
2970:. Retrieved
2966:
2957:
2946:. Retrieved
2942:the original
2937:
2928:
2917:. Retrieved
2913:
2904:
2853:
2849:
2839:
2804:
2800:
2790:
2747:
2743:
2733:
2690:
2686:
2676:
2633:
2629:
2619:
2576:
2572:
2562:
2551:. Retrieved
2547:
2538:
2495:
2491:
2481:
2438:
2434:
2424:
2381:
2377:
2367:
2337:(1): 57–63.
2334:
2330:
2324:
2305:
2299:
2257:(9): e3280.
2254:
2250:
2240:
2199:
2195:
2189:
2178:. Retrieved
2174:
2119:
2115:
2104:
2063:
2059:
2003:
1999:
1988:
1977:. Retrieved
1973:
1964:
1913:
1909:
1899:
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