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Volume 32; Issue 5
Main
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:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 215 KB
Your tags:
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:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 413 KB
Your tags:
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:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 209 KB
Your tags:
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:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 405 KB
Your tags:
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:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 153 KB
Your tags:
english, 2011
6
CGEN—A clinical GENetics software application
Pål Møller
,
Neal Clark
Journal:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 461 KB
Your tags:
english, 2011
7
Databases in the area of pharmacogenetics
Sarah C. Sim
,
Russ B. Altman
,
Magnus Ingelman-Sundberg
Journal:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 139 KB
Your tags:
english, 2011
8
Emerging landscape of genomics in the electronic health record for personalized medicine
Mollie H. Ullman-Cullere
,
Jomol P. Mathew
Journal:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 122 KB
Your tags:
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:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 140 KB
Your tags:
english, 2011
10
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
Joanna Amberger
,
Carol Bocchini
,
Ada Hamosh
Journal:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 227 KB
Your tags:
english, 2011
11
Bioinformatics for Human Genetics: Promises and Challenges
Annika Lindblom
,
Peter N. Robinson
Journal:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 138 KB
Your tags:
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:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 337 KB
Your tags:
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:
Human Mutation
Year:
2011
Language:
english
File:
PDF, 415 KB
Your tags:
english, 2011
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