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Joanna Amberger et al.
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B. M. Knoppers et al.
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[Anonymous]
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Fergus J. Couch et al.
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Elizabeth C. Chao et al.
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Amanda B. Spurdle et al.
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Kelly A. Metcalfe et al.
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David R. Bentley et al.
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Nayanah Siva
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Chris F. Taylor et al.
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[Anonymous]
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Alkes L. Price et al.
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Nicholas J. Marini et al.
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P. D. Stenson et al.
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The HGNC Database in 2008: a resource for the human genome
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Robert K. Montgomery et al.
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The diploid genome sequence of an individual human
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A. A. Saadallah et al.
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Standards for reporting bioscience data: a forward look
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Philip A. Chan et al.
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Martina Zaninotto et al.
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Sarah A. Tishkoff et al.
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A database of locus-specific databases
Ourania Horaitis et al.
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Grand challenges in global health: Community engagement in research in developing countries
Paulina O. Tindana et al.
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FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
Sjozef van Baal et al.
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A statistical score for assessing the quality of multiple sequence alignments
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Leslie O. Schulz et al.
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J Kaput et al.
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Locus-speciflic databases:: From ethical principles to practice
RGH Cotton et al.
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LOVD: Easy creation of a locus-specific sequence variation database using an LSDB-in-a-Box approach
IFAC Fokkema et al.
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MutDB services: interactive structural analysis of mutation data
J Dantzer et al.
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Whole-genome patterns of common DNA variation in three human populations
DA Hinds et al.
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VK Nalla et al.
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LB Jorde et al.
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Concerns over participation in genetic research among Malay-Muslims, Chinese and Indians in Singapore: A focus group study
ML Wong et al.
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Integrating ethics and science in the international HapMap project
MW Foster
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LOINC, a universal standard for identifying laboratory observations: A 5-year update
CJ McDonald et al.
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AH Bittles
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Identification of a variant associated with adult-type hypolactasia
NS Enattah et al.
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GeneTests-GeneClinics: Genetic testing information for a growing audience
RA Pagon et al.
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Consanguinity and its relevance to clinical genetics
AH Bittles
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Using genetic variation to study human disease
JG Taylor et al.
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Initial sequencing and analysis of the human genome
ES Lander et al.
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dbSNP: the NCBI database of genetic variation
ST Sherry et al.
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