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Raymond Dalgleish

Showing results (31-40 of 47) with videos related to

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Nature Genetics|October 30, 2024
Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic ratesPeter J Freeman, John F Wagstaff, Ivo F A C Fokkema, et al.
Nature Genetics|October 2, 2024
Standardizing variant naming in literature with VariantValidator to increase diagnostic ratesPeter J Freeman, John F Wagstaff, Ivo F A C Fokkema, et al.
Human Mutation|August 22, 2018
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 UpdateMeng Wang, Keith M Callenberg, Raymond Dalgleish, et al.
Human Mutation|March 3, 2016
HGVS Recommendations for the Description of Sequence Variants: 2016 UpdateJohan T den Dunnen, Raymond Dalgleish, Donna R Maglott, et al.
Nature Biotechnology|September 10, 2011
Clarity and claims in variation/mutation databasingRaymond Dalgleish, William S Oetting, Arleen D Auerbach, et al.
Gigascience|May 3, 2013
Quantifying the use of bioresources for promoting their sharing in scientific researchLaurence Mabile, Raymond Dalgleish, Gudmundur A Thorisson, et al.
Human Mutation|August 5, 2010
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Sue Povey, Aida I Al Aqeel, Anne Cambon-Thomsen, et al.
BMC Bioinformatics|October 4, 2012
VarioML framework for comprehensive variation data representation and exchangeMyles Byrne, Ivo Fac Fokkema, Owen Lancaster, et al.
Leukemia|October 7, 2021
HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusionsElspeth A Bruford, Cristina R Antonescu, Andrew J Carroll, et al.
Genome Medicine|April 20, 2010
Locus Reference Genomic sequences: an improved basis for describing human DNA variantsRaymond Dalgleish, Paul Flicek, Fiona Cunningham, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Nature Genetics|October 30, 2024
Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic ratesPeter J Freeman, John F Wagstaff, Ivo F A C Fokkema, et al.
Nature Genetics|October 2, 2024
Standardizing variant naming in literature with VariantValidator to increase diagnostic ratesPeter J Freeman, John F Wagstaff, Ivo F A C Fokkema, et al.
Human Mutation|August 22, 2018
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 UpdateMeng Wang, Keith M Callenberg, Raymond Dalgleish, et al.
Human Mutation|March 3, 2016
HGVS Recommendations for the Description of Sequence Variants: 2016 UpdateJohan T den Dunnen, Raymond Dalgleish, Donna R Maglott, et al.
Nature Biotechnology|September 10, 2011
Clarity and claims in variation/mutation databasingRaymond Dalgleish, William S Oetting, Arleen D Auerbach, et al.
Gigascience|May 3, 2013
Quantifying the use of bioresources for promoting their sharing in scientific researchLaurence Mabile, Raymond Dalgleish, Gudmundur A Thorisson, et al.
Human Mutation|August 5, 2010
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Sue Povey, Aida I Al Aqeel, Anne Cambon-Thomsen, et al.
BMC Bioinformatics|October 4, 2012
VarioML framework for comprehensive variation data representation and exchangeMyles Byrne, Ivo Fac Fokkema, Owen Lancaster, et al.
Leukemia|October 7, 2021
HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusionsElspeth A Bruford, Cristina R Antonescu, Andrew J Carroll, et al.
Genome Medicine|April 20, 2010
Locus Reference Genomic sequences: an improved basis for describing human DNA variantsRaymond Dalgleish, Paul Flicek, Fiona Cunningham, et al.
Pageof 5