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A high-resolution map of human evolutionary constraint using 29 mammals

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A high-resolution map of human evolutionary constraint using 29 mammals. / Lindblad-Toh, Kerstin; Garber, Manuel; Zuk, Or; Lin, Michael F; Parker, Brian J; Jordan, Gregory; Mauceli, Evan; Ward, Lucas D; Lowe, Craig B; Holloway, Alisha K; Clamp, Michele; Gnerre, Sante; Moltke, Ida; Wen, Jiayu; Pedersen, Jakob Skou.

I: Nature, Bind 478, Nr. 7370, 27.10.2011, s. 476-82.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Lindblad-Toh, K, Garber, M, Zuk, O, Lin, MF, Parker, BJ, Jordan, G, Mauceli, E, Ward, LD, Lowe, CB, Holloway, AK, Clamp, M, Gnerre, S, Moltke, I, Wen, J & Pedersen, JS 2011, 'A high-resolution map of human evolutionary constraint using 29 mammals' Nature, bind 478, nr. 7370, s. 476-82. https://doi.org/10.1038/nature10530

APA

Lindblad-Toh, K., Garber, M., Zuk, O., Lin, M. F., Parker, B. J., Jordan, G., ... Pedersen, J. S. (2011). A high-resolution map of human evolutionary constraint using 29 mammals. Nature, 478(7370), 476-82. https://doi.org/10.1038/nature10530

Vancouver

Lindblad-Toh K, Garber M, Zuk O, Lin MF, Parker BJ, Jordan G o.a. A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 2011 okt 27;478(7370):476-82. https://doi.org/10.1038/nature10530

Author

Lindblad-Toh, Kerstin ; Garber, Manuel ; Zuk, Or ; Lin, Michael F ; Parker, Brian J ; Jordan, Gregory ; Mauceli, Evan ; Ward, Lucas D ; Lowe, Craig B ; Holloway, Alisha K ; Clamp, Michele ; Gnerre, Sante ; Moltke, Ida ; Wen, Jiayu ; Pedersen, Jakob Skou. / A high-resolution map of human evolutionary constraint using 29 mammals. I: Nature. 2011 ; Bind 478, Nr. 7370. s. 476-82.

Bibtex

@article{1fac1ab08bc548ffaf87d3d61691cb78,
title = "A high-resolution map of human evolutionary constraint using 29 mammals",
abstract = "The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5{\%} of the human genome has undergone purifying selection, and locate constrained elements covering ~4.2{\%} of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for ~60{\%} of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.",
author = "Kerstin Lindblad-Toh and Manuel Garber and Or Zuk and Lin, {Michael F} and Parker, {Brian J} and Gregory Jordan and Evan Mauceli and Ward, {Lucas D} and Lowe, {Craig B} and Holloway, {Alisha K} and Michele Clamp and Sante Gnerre and Ida Moltke and Jiayu Wen and Pedersen, {Jakob Skou}",
year = "2011",
month = "10",
day = "27",
doi = "10.1038/nature10530",
language = "English",
volume = "478",
pages = "476--82",
journal = "Nature",
issn = "0028-0836",
publisher = "nature publishing group",
number = "7370",

}

RIS

TY - JOUR

T1 - A high-resolution map of human evolutionary constraint using 29 mammals

AU - Lindblad-Toh, Kerstin

AU - Garber, Manuel

AU - Zuk, Or

AU - Lin, Michael F

AU - Parker, Brian J

AU - Jordan, Gregory

AU - Mauceli, Evan

AU - Ward, Lucas D

AU - Lowe, Craig B

AU - Holloway, Alisha K

AU - Clamp, Michele

AU - Gnerre, Sante

AU - Moltke, Ida

AU - Wen, Jiayu

AU - Pedersen, Jakob Skou

PY - 2011/10/27

Y1 - 2011/10/27

N2 - The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering ~4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for ~60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.

AB - The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering ~4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for ~60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.

U2 - 10.1038/nature10530

DO - 10.1038/nature10530

M3 - Journal article

VL - 478

SP - 476

EP - 482

JO - Nature

JF - Nature

SN - 0028-0836

IS - 7370

ER -

ID: 35188003