Integration of cytogenetic landmarks into the draft sequence of the human genome

V G Cheung; N Nowak; W Jang; I R Kirsch; S Zhao; X N Chen; T S Furey; U J Kim; W L Kuo; M Olivier; J Conroy; A Kasprzyk; H Massa; R Yonescu; S Sait; C Thoreen; A Snijders; E Lemyre; J A Bailey; A Bruzel; W D Burrill; S M Clegg; S Collins; P Dhami; C Friedman; C S Han; S Herrick; J Lee; A H Ligon; S Lowry; M Morley; S Narasimhan; K Osoegawa; Z Peng; I Plajzer-Frick; B J Quade; D Scott; K Sirotkin; A A Thorpe; J W Gray; J Hudson; D Pinkel; T Ried; L Rowen; G L Shen-Ong; R L Strausberg; E Birney; D F Callen; J F Cheng; C C Morton; BAC Resource Consortium

doi:10.1038/35057192

Integration of cytogenetic landmarks into the draft sequence of the human genome

V G Cheung, N Nowak, W Jang, I R Kirsch, S Zhao, X N Chen, T S Furey, U J Kim, W L Kuo, M Olivier, J Conroy, A Kasprzyk, H Massa, R Yonescu, S Sait, C Thoreen, A Snijders, E Lemyre, J A Bailey, A BruzelW D Burrill, S M Clegg, S Collins, P Dhami, C Friedman, C S Han, S Herrick, J Lee, A H Ligon, S Lowry, M Morley, S Narasimhan, K Osoegawa, Z Peng, I Plajzer-Frick, B J Quade, D Scott, K Sirotkin, A A Thorpe, J W Gray, J Hudson, D Pinkel, T Ried, L Rowen, G L Shen-Ong, R L Strausberg, E Birney, D F Callen, J F Cheng, C C Morton, BAC Resource Consortium

Division of Evolution, Infection and Genomics

University of Pennsylvania

Research output: Contribution to journal › Article › peer-review

Abstract

We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer.

Original language	English
Pages (from-to)	953-8
Number of pages	6
Journal	Nature
Volume	409
Issue number	6822
DOIs	https://doi.org/10.1038/35057192
Publication status	Published - 15 Feb 2001

Keywords

Chromosome Aberrations
Chromosome Mapping
Chromosomes, Artificial, Bacterial
Cytogenetic Analysis
Genetic Markers
Genome, Human
Human Genome Project
Humans
In Situ Hybridization, Fluorescence
Radiation Hybrid Mapping
Sequence Tagged Sites
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/35057192

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Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X. N., Furey, T. S., Kim, U. J., Kuo, W. L., Olivier, M., Conroy, J., Kasprzyk, A., Massa, H., Yonescu, R., Sait, S., Thoreen, C., Snijders, A., Lemyre, E., Bailey, J. A., ... BAC Resource Consortium (2001). Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature, 409(6822), 953-8. https://doi.org/10.1038/35057192

@article{c6abdb9f572f4dfeab8cb2f717f9bb6b,

title = "Integration of cytogenetic landmarks into the draft sequence of the human genome",

abstract = "We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer.",

keywords = "Chromosome Aberrations, Chromosome Mapping, Chromosomes, Artificial, Bacterial, Cytogenetic Analysis, Genetic Markers, Genome, Human, Human Genome Project, Humans, In Situ Hybridization, Fluorescence, Radiation Hybrid Mapping, Sequence Tagged Sites, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.",

author = "Cheung, {V G} and N Nowak and W Jang and Kirsch, {I R} and S Zhao and Chen, {X N} and Furey, {T S} and Kim, {U J} and Kuo, {W L} and M Olivier and J Conroy and A Kasprzyk and H Massa and R Yonescu and S Sait and C Thoreen and A Snijders and E Lemyre and Bailey, {J A} and A Bruzel and Burrill, {W D} and Clegg, {S M} and S Collins and P Dhami and C Friedman and Han, {C S} and S Herrick and J Lee and Ligon, {A H} and S Lowry and M Morley and S Narasimhan and K Osoegawa and Z Peng and I Plajzer-Frick and Quade, {B J} and D Scott and K Sirotkin and Thorpe, {A A} and Gray, {J W} and J Hudson and D Pinkel and T Ried and L Rowen and Shen-Ong, {G L} and Strausberg, {R L} and E Birney and Callen, {D F} and Cheng, {J F} and Morton, {C C} and {BAC Resource Consortium}",

year = "2001",

month = feb,

day = "15",

doi = "10.1038/35057192",

language = "English",

volume = "409",

pages = "953--8",

journal = "Nature",

issn = "0028-0836",

publisher = "Springer Nature",

number = "6822",

}

Cheung, VG, Nowak, N, Jang, W, Kirsch, IR, Zhao, S, Chen, XN, Furey, TS, Kim, UJ, Kuo, WL, Olivier, M, Conroy, J, Kasprzyk, A, Massa, H, Yonescu, R, Sait, S, Thoreen, C, Snijders, A, Lemyre, E, Bailey, JA, Bruzel, A, Burrill, WD, Clegg, SM, Collins, S, Dhami, P, Friedman, C, Han, CS, Herrick, S, Lee, J, Ligon, AH, Lowry, S, Morley, M, Narasimhan, S, Osoegawa, K, Peng, Z, Plajzer-Frick, I, Quade, BJ, Scott, D, Sirotkin, K, Thorpe, AA, Gray, JW, Hudson, J, Pinkel, D, Ried, T, Rowen, L, Shen-Ong, GL, Strausberg, RL, Birney, E, Callen, DF, Cheng, JF, Morton, CC & BAC Resource Consortium 2001, 'Integration of cytogenetic landmarks into the draft sequence of the human genome', Nature, vol. 409, no. 6822, pp. 953-8. https://doi.org/10.1038/35057192

TY - JOUR

T1 - Integration of cytogenetic landmarks into the draft sequence of the human genome

AU - Cheung, V G

AU - Nowak, N

AU - Jang, W

AU - Kirsch, I R

AU - Zhao, S

AU - Chen, X N

AU - Furey, T S

AU - Kim, U J

AU - Kuo, W L

AU - Olivier, M

AU - Conroy, J

AU - Kasprzyk, A

AU - Massa, H

AU - Yonescu, R

AU - Sait, S

AU - Thoreen, C

AU - Snijders, A

AU - Lemyre, E

AU - Bailey, J A

AU - Bruzel, A

AU - Burrill, W D

AU - Clegg, S M

AU - Collins, S

AU - Dhami, P

AU - Friedman, C

AU - Han, C S

AU - Herrick, S

AU - Lee, J

AU - Ligon, A H

AU - Lowry, S

AU - Morley, M

AU - Narasimhan, S

AU - Osoegawa, K

AU - Peng, Z

AU - Plajzer-Frick, I

AU - Quade, B J

AU - Scott, D

AU - Sirotkin, K

AU - Thorpe, A A

AU - Gray, J W

AU - Hudson, J

AU - Pinkel, D

AU - Ried, T

AU - Rowen, L

AU - Shen-Ong, G L

AU - Strausberg, R L

AU - Birney, E

AU - Callen, D F

AU - Cheng, J F

AU - Morton, C C

AU - BAC Resource Consortium

PY - 2001/2/15

Y1 - 2001/2/15

N2 - We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer.

AB - We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer.

KW - Chromosome Aberrations

KW - Chromosome Mapping

KW - Chromosomes, Artificial, Bacterial

KW - Cytogenetic Analysis

KW - Genetic Markers

KW - Genome, Human

KW - Human Genome Project

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Radiation Hybrid Mapping

KW - Sequence Tagged Sites

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, Non-P.H.S.

KW - Research Support, U.S. Gov't, P.H.S.

U2 - 10.1038/35057192

DO - 10.1038/35057192

M3 - Article

C2 - 11237021

SN - 0028-0836

VL - 409

SP - 953

EP - 958

JO - Nature

JF - Nature

IS - 6822

ER -

Integration of cytogenetic landmarks into the draft sequence of the human genome

Abstract

Keywords

UN SDGs

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