Volume 32; Issue 5

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Human Mutation
Volume 32; Issue 5

Human Mutation

Volume 32; Issue 5

1

Describing structural changes by extending HGVS sequence variation nomenclature

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

Journal:

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

2

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 413 KB

english, 2011

3

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 209 KB

english, 2011

4

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 405 KB

english, 2011

5

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

Pål Møller, Neal Clark, Lovise Mæhle

Journal:

Year:

2011

Language:

english

File:

PDF, 153 KB

english, 2011

6

CGEN—A clinical GENetics software application

Pål Møller, Neal Clark

Journal:

Year:

2011

Language:

english

File:

PDF, 461 KB

english, 2011

7

Databases in the area of pharmacogenetics

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

Journal:

Year:

2011

Language:

english

File:

PDF, 139 KB

english, 2011

8

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

Mollie H. Ullman-Cullere, Jomol P. Mathew

Journal:

Year:

2011

Language:

english

File:

PDF, 122 KB

english, 2011

9

Initiating a Human Variome Project Country Node

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

Journal:

Year:

2011

Language:

english

File:

PDF, 140 KB

english, 2011

10

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

Joanna Amberger, Carol Bocchini, Ada Hamosh

Journal:

Year:

2011

Language:

english

File:

PDF, 227 KB

english, 2011

11

Bioinformatics for Human Genetics: Promises and Challenges

Annika Lindblom, Peter N. Robinson

Journal:

Year:

2011

Language:

english

File:

PDF, 138 KB

english, 2011

12

An informatics project and online “Knowledge Centre” supporting modern genotype-to-phenotype research

Adam J. Webb, Gudmundur A. Thorisson, Anthony J. Brookes, on behalf of the GEN2PHEN Consortium

Journal:

Year:

2011

Language:

english

File:

PDF, 337 KB

english, 2011

13

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

Samuel J. Aronson, Eugene H. Clark, Lawrence J. Babb, Samantha Baxter, Lisa M. Farwell, Birgit H. Funke, Amy Lovelette Hernandez, Victoria A. Joshi, Elaine Lyon, Andrew R. Parthum, Franklin J. Russell

Journal:

Year:

2011

Language:

english

File:

PDF, 415 KB

english, 2011