GENETICS The Human Variome Project

被引：44

作者：

Cotton, Richard G. H. ^{[1
]}

Auerbach, Arleen D.

Axton, Myles

Barash, Carol Isaacson

Berkovic, Samuel F. ^{[2
]}

Brookes, Anthony J.

Burn, John

Cutting, Garry

den Dunnen, Johan T.

Flicek, Paul

Freimer, Nelson ^{[3
]}

Greenblatt, Marc S.

Howard, Heather J. ^{[1
]}

Katz, Michael

Macrae, Finlay A.

Maglott, Donna

Moeslein, Gabriela

Povey, Sue

Ramesar, Rajkumar S.

Richards, Carolyn S.

Seminara, Daniela

Smith, Timothy D. ^{[1
]}

Sobrido, Maria-Jesus ^{[4
,5
]}

Solbakk, Jan Helge

Tanzi, Rudolph E. ^{[6
,7
]}

Tavtigian, Sean V.

Taylor, Graham R.

Utsunomiya, Joji

Watson, Michael

机构：

[1] Howard Florey Inst Expt Physiol & Med, Genom Disorders Res Ctr, Melbourne, Vic, Australia

[2] Univ Melbourne, Austin Hlth W, Epilepsy Res Ctr, Heidelberg, Vic, Australia

[3] Univ Calif Los Angeles, Ctr Neurobehav Genet, Semel Inst Neurosci & Human Behav, Los Angeles, CA USA

[4] Fdn Publ Galega Med Xenomica, Santiago De Compostela, Spain

[5] Inst Hlth Carlos III, Ctr Network Biomed Res Rare Dis CIBERER, Madrid, Spain

[6] Harvard Univ, Sch Med, Charlestown, MA USA

[7] Massachusetts Gen Hosp, MassGen Inst Neurodegenerat Dis, Charlestown, MA USA

来源：

SCIENCE | 2008年 / 322卷 / 5903期

关键词：

D O I：

10.1126/science.1167363

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：861 / 862

页数：2

共 6 条

[1]

[Anonymous], 2007, NAT GENET, V39, P423

[2]

Baraitser M, 2001, LONDON DYSMORPHOLOGY

[3] THE EFFECT OF MENDELIAN DISEASE ON HUMAN HEALTH - A MEASUREMENT [J].

COSTA, T ;

SCRIVER, CR ;

CHILDS, B .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (02) :231-242

[4] Recommendations of the 2006 Human Variome Project meeting [J].

Cotton, Richard G. H. .

NATURE GENETICS, 2007, 39 (04) :433-436

[5] LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach [J].

Fokkema, IFAC ;

den Dunnen, JT ;

Taschner, PEM .

HUMAN MUTATION, 2005, 26 (02) :63-68

[6]

Ring Huijun Z, 2006, Pharmacogenomics, V7, P969, DOI 10.2217/14622416.7.7.969

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