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