Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 5

Results: 13

The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 532, doi. 10.1002/humu.21470

By:

Aronson, Samuel J.;
Clark, Eugene H.;
Babb, Lawrence J.;
Baxter, Samantha;
Farwell, Lisa M.;
Funke, Birgit H.;
Hernandez, Amy Lovelette;
Joshi, Victoria A.;
Lyon, Elaine;
Parthum, Andrew R.;
Russell, Franklin J.;
Varugheese, Matthew;
Venman, Thomas C.;
Rehm, Heidi L.

Publication type:

Article

A simplified method for segregation analysis (SISA) to determine penetrance and expression of a genetic variant in a family.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 568, doi. 10.1002/humu.21441

By:

Møller, Pål;
Clark, Neal;
Mæhle, Lovise

Publication type:

Article

CGEN-A clinical GENetics software application.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 537, doi. 10.1002/humu.21452

By:

Møller, Pål;
Clark, Neal

Publication type:

Article

Initiating a Human Variome Project Country Node.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 501, doi. 10.1002/humu.21463

By:

AlAama, Jumana;
Smith, Timothy D.;
Lo, Alan;
Howard, Heather;
Kline, Alexandria A.;
Lange, Matthew;
Kaput, Jim;
Cotton, Richard G.H.

Publication type:

Article

Emerging landscape of genomics in the electronic health record for personalized medicine.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 512, doi. 10.1002/humu.21456

By:

Ullman-Cullere, Mollie H.;
Mathew, Jomol P.

Publication type:

Article

Describing structural changes by extending HGVS sequence variation nomenclature.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 507, doi. 10.1002/humu.21427

By:

Taschner, Peter E.M.;
den Dunnen, Johan T.

Publication type:

Article

LOVD v.2.0: the next generation in gene variant databases.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 557, doi. 10.1002/humu.21438

By:

Fokkema, Ivo F. A. C.;
Taschner, Peter E. M.;
Schaafsma, Gerard C. P.;
Celli, J.;
Laros, Jeroen F. J.;
den Dunnen, Johan T.

Publication type:

Article

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 564, doi. 10.1002/humu.21466

By:

Amberger, Joanna;
Bocchini, Carol;
Hamosh, Ada

Publication type:

Article

BioGrid Australia facilitates collaborative medical and bioinformatics research across hospitals and medical research institutes by linking data from diverse disease and data types.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 517, doi. 10.1002/humu.21437

By:

Merriel, Robert B.;
Gibbs, Peter;
O'Brien, Terence J.;
Hibbert, Marienne

Publication type:

Article

Databases in the area of pharmacogenetics.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 526, doi. 10.1002/humu.21454

By:

Sim, Sarah C.;
Altman, Russ B.;
Ingelman-Sundberg, Magnus

Publication type:

Article

An informatics project and online 'Knowledge Centre' supporting modern genotype-to-phenotype research.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 543, doi. 10.1002/humu.21469

By:

Webb, Adam J.;
Thorisson, Gudmundur A.;
Brookes, Anthony J.

Publication type:

Article

Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 551, doi. 10.1002/humu.21435

By:

Bernstein, Inge T.;
Lindorff-Larsen, Karen;
Timshel, Susanne;
Brandt, Carsten A.;
Dinesen, Birger;
Fenger, Mogens;
Gerdes, Anne-Marie;
Iversen, Lene H.;
Madsen, Mogens R.;
Okkels, Henrik;
Sunde, Lone;
Rahr, Hans B.;
Wikman, Friedrick P.;
Rossing, Niels

Publication type:

Article

Bioinformatics for Human Genetics: Promises and Challenges.

Published in:

Human Mutation, 2011, v. 32, n. 5, p. 495, doi. 10.1002/humu.21468

By:

Lindblom, Annika;
Robinson, Peter N.

Publication type:

Article