Recommendations for clinical interpretation of variants in non-coding regions of the genome

被引：0

作者：

Ellingford, Jamie ^{[1
]}

Ahn, Joo Wook ^{[2
]}

Bagnall, Richard ^{[3
]}

Baralle, Diana ^{[4
]}

Barton, Stephanie ^{[5
]}

Campbell, Christopher ^{[5
]}

Downes, Kate ^{[2
]}

Ellard, Sian ^{[6
]}

Duff-Farrier, Celia ^{[7
]}

FitzPatrick, David ^{[8
]}

Greally, John ^{[9
]}

Ingles, Jodie ^{[10
]}

Krishnan, Neesha ^{[10
]}

Lord, Jenny ^{[4
]}

Martin, Hilary ^{[11
]}

Newman, William ^{[1
]}

O'Donnell-Luria, Anne ^{[12
]}

Ramsden, Simon ^{[5
]}

Rehm, Heidi ^{[12
]}

Richardson, Ebony

Singer-Berk, Moriel ^{[12
]}

Taylor, Jenny ^{[13
]}

Williams, Maggie ^{[7
]}

Wood, Jordan ^{[12
]}

Wright, Caroline ^{[14
]}

Harrison, Steven ^{[12
]}

Whiffin, Nicola ^{[13
]}

机构：

[1] Univ Manchester, Manchester, England

[2] Cambridge Genom Lab, Cambridge, England

[3] Univ Sydney, Sydney, Australia

[4] Univ Southampton, Southampton, England

[5] North West NHS Genom Lab Hub, Manchester, England

[6] South West NHS Genom Lab Hub, Exeter, England

[7] South West NHS Genom Lab Hub, Bristol, England

[8] Univ Edinburgh, Edinburgh, Scotland

[9] Albert Einstein Coll Med, New York, NY USA

[10] Garvan Inst Med Res, Sydney, Australia

[11] Wellcome Sanger Inst, Hinxton, England

[12] Broad Inst MIT & Harvard, Boston, MA USA

[13] Univ Oxford, Oxford, England

[14] Univ Exeter, Exeter, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

EP17.005

引用

页码：284 / 285

页数：2

共 50 条

[1] Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Ellingford, Jamie M.
Ahn, Joo Wook
Bagnall, Richard D.
Baralle, Diana
Barton, Stephanie
Campbell, Chris
Downes, Kate
Ellard, Sian
Duff-Farrier, Celia
FitzPatrick, David R.
Greally, John M.
Ingles, Jodie
Krishnan, Neesha
Lord, Jenny
Martin, Hilary C.
Newman, William G.
O'Donnell-Luria, Anne
Ramsden, Simon C.
Rehm, Heidi L.
Richardson, Ebony
Singer-Berk, Moriel
Taylor, Jenny C.
Williams, Maggie
Wood, Jordan C.
Wright, Caroline F.
Harrison, Steven M.
Whiffin, Nicola
[J]. GENOME MEDICINE, 2022, 14 (01)
[2] Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Jamie M. Ellingford
Joo Wook Ahn
Richard D. Bagnall
Diana Baralle
Stephanie Barton
Chris Campbell
Kate Downes
Sian Ellard
Celia Duff-Farrier
David R. FitzPatrick
John M. Greally
Jodie Ingles
Neesha Krishnan
Jenny Lord
Hilary C. Martin
William G. Newman
Anne O’Donnell-Luria
Simon C. Ramsden
Heidi L. Rehm
Ebony Richardson
Moriel Singer-Berk
Jenny C. Taylor
Maggie Williams
Jordan C. Wood
Caroline F. Wright
Steven M. Harrison
Nicola Whiffin
[J]. Genome Medicine, 14
[3] Towards better interpretation of variants in non-coding regions of the genome
Whiffin, Nicola
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 20 - 20
[4] Annotating non-coding regions of the genome
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[J]. NATURE REVIEWS GENETICS, 2010, 11 (08) : 559 - 571
[5] Annotating non-coding regions of the genome
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[J]. Nature Reviews Genetics, 2010, 11 : 559 - 571
[6] Ranking of non-coding pathogenic variants and putative essential regions of the human genome
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[J]. Nature Communications, 10
[7] Ranking of non-coding pathogenic variants and putative essential regions of the human genome
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[J]. NATURE COMMUNICATIONS, 2019, 10 (1)
[8] Clinical impact of variants in non-coding regions of SHOX - Current knowledge
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[J]. GENE, 2022, 818
[9] Triaging risk variants in the non-coding genome
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[J]. NATURE REVIEWS GENETICS, 2014, 15 (12) : 779 - 779
[10] Triaging risk variants in the non-coding genome
Linda Koch
[J]. Nature Reviews Genetics, 2014, 15 : 779 - 779

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