Improving diagnostic yield of exome-sequencing through prioritization of genes with predicted HPO assignments

P. Deelen; S. van Dam; J. M. Karjalainen; H. Brugge; P. Folkertsma; C. C. van Diemen; W. S. Kerstjens-Frederikse; J. C. Herkert; T. Gillett; M. A. Swertz; L. Franke

Improving diagnostic yield of exome-sequencing through prioritization of genes with predicted HPO assignments

P. Deelen, S. van Dam, J. M. Karjalainen, H. Brugge, P. Folkertsma, C. C. van Diemen, W. S. Kerstjens-Frederikse, J. C. Herkert, T. Gillett, M. A. Swertz, L. Franke

Onderzoeksoutput › Academic

Originele taal-2	English
Pagina's (van-tot)	537-537
Aantal pagina's	1
Tijdschrift	European Journal of Human Genetics
Volume	27
Status	Published - jul.-2019
Evenement	51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) - Milan, Italy Duur: 16-jun.-2018 → 19-jun.-2018

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@article{ab91f14cceb44472ae774b1fef1a4f7f,

title = "Improving diagnostic yield of exome-sequencing through prioritization of genes with predicted HPO assignments",

author = "P. Deelen and {van Dam}, S. and Karjalainen, {J. M.} and H. Brugge and P. Folkertsma and {van Diemen}, {C. C.} and Kerstjens-Frederikse, {W. S.} and Herkert, {J. C.} and T. Gillett and Swertz, {M. A.} and L. Franke",

year = "2019",

month = jul,

language = "English",

volume = "27",

pages = "537--537",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

note = "51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) ; Conference date: 16-06-2018 Through 19-06-2018",

}

TY - JOUR

T1 - Improving diagnostic yield of exome-sequencing through prioritization of genes with predicted HPO assignments

AU - Deelen, P.

AU - van Dam, S.

AU - Karjalainen, J. M.

AU - Brugge, H.

AU - Folkertsma, P.

AU - van Diemen, C. C.

AU - Kerstjens-Frederikse, W. S.

AU - Herkert, J. C.

AU - Gillett, T.

AU - Swertz, M. A.

AU - Franke, L.

PY - 2019/7

Y1 - 2019/7

M3 - Meeting Abstract

SN - 1018-4813

VL - 27

SP - 537

EP - 537

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

T2 - 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)

Y2 - 16 June 2018 through 19 June 2018

ER -