Recommendations for locus-speciific databases and their curation

R. G. H. Cotton; A. D. Auerbach; J. S. Beckmann; O. O. Blumenfeld; A. J. Brookes; Angus Brown; P. Carrera; D. W. Cox; B. Gottlieb; M. S. Greenblatt; P. Hilbert; H. Lehvaslaiho; P. Liang; S. Marsh; D. W. Nebert; S. Povey; S. Rossetti; C. R. Scriver; M. Summar; D. R. Tolan; I. C. Verma; M. Vihinen; J. T. den Dunnen

doi:10.1002/humu.20650

Recommendations for locus-speciific databases and their curation

R. G. H. Cotton, A. D. Auerbach, J. S. Beckmann, O. O. Blumenfeld, A. J. Brookes, Angus Brown, P. Carrera, D. W. Cox, B. Gottlieb, M. S. Greenblatt, P. Hilbert, H. Lehvaslaiho, P. Liang, S. Marsh, D. W. Nebert, S. Povey, S. Rossetti, C. R. Scriver, M. Summar, D. R. TolanI. C. Verma, M. Vihinen, J. T. den Dunnen

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Abstract / Description of output

Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.

Original language	English
Pages (from-to)	2-5
Number of pages	4
Journal	Human Mutation: Variation, Informatics and Disease
Volume	29
Issue number	1
DOIs	https://doi.org/10.1002/humu.20650
Publication status	Published - Jan 2008

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Cotton, R. G. H., Auerbach, A. D., Beckmann, J. S., Blumenfeld, O. O., Brookes, A. J., Brown, A., Carrera, P., Cox, D. W., Gottlieb, B., Greenblatt, M. S., Hilbert, P., Lehvaslaiho, H., Liang, P., Marsh, S., Nebert, D. W., Povey, S., Rossetti, S., Scriver, C. R., Summar, M., ... den Dunnen, J. T. (2008). Recommendations for locus-speciific databases and their curation. Human Mutation: Variation, Informatics and Disease, 29(1), 2-5. https://doi.org/10.1002/humu.20650

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title = "Recommendations for locus-speciific databases and their curation",

abstract = "Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.",

author = "Cotton, {R. G. H.} and Auerbach, {A. D.} and Beckmann, {J. S.} and Blumenfeld, {O. O.} and Brookes, {A. J.} and Angus Brown and P. Carrera and Cox, {D. W.} and B. Gottlieb and Greenblatt, {M. S.} and P. Hilbert and H. Lehvaslaiho and P. Liang and S. Marsh and Nebert, {D. W.} and S. Povey and S. Rossetti and Scriver, {C. R.} and M. Summar and Tolan, {D. R.} and Verma, {I. C.} and M. Vihinen and {den Dunnen}, {J. T.}",

year = "2008",

month = jan,

doi = "10.1002/humu.20650",

language = "English",

volume = "29",

pages = "2--5",

journal = "Human Mutation: Variation, Informatics and Disease",

issn = "1059-7794",

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Cotton, RGH, Auerbach, AD, Beckmann, JS, Blumenfeld, OO, Brookes, AJ, Brown, A, Carrera, P, Cox, DW, Gottlieb, B, Greenblatt, MS, Hilbert, P, Lehvaslaiho, H, Liang, P, Marsh, S, Nebert, DW, Povey, S, Rossetti, S, Scriver, CR, Summar, M, Tolan, DR, Verma, IC, Vihinen, M & den Dunnen, JT 2008, 'Recommendations for locus-speciific databases and their curation', Human Mutation: Variation, Informatics and Disease, vol. 29, no. 1, pp. 2-5. https://doi.org/10.1002/humu.20650

TY - JOUR

T1 - Recommendations for locus-speciific databases and their curation

AU - Cotton, R. G. H.

AU - Auerbach, A. D.

AU - Beckmann, J. S.

AU - Blumenfeld, O. O.

AU - Brookes, A. J.

AU - Brown, Angus

AU - Carrera, P.

AU - Cox, D. W.

AU - Gottlieb, B.

AU - Greenblatt, M. S.

AU - Hilbert, P.

AU - Lehvaslaiho, H.

AU - Liang, P.

AU - Marsh, S.

AU - Nebert, D. W.

AU - Povey, S.

AU - Rossetti, S.

AU - Scriver, C. R.

AU - Summar, M.

AU - Tolan, D. R.

AU - Verma, I. C.

AU - Vihinen, M.

AU - den Dunnen, J. T.

PY - 2008/1

Y1 - 2008/1

N2 - Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.

AB - Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.

U2 - 10.1002/humu.20650

DO - 10.1002/humu.20650

M3 - Article

SN - 1059-7794

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SP - 2

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JO - Human Mutation: Variation, Informatics and Disease

JF - Human Mutation: Variation, Informatics and Disease

IS - 1

ER -

Recommendations for locus-speciific databases and their curation

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