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Martin G Reese

Showing results (11-20 of 27) with videos related to

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Genome Biology|August 28, 2010
A standard variation file format for human genome sequencesMartin G Reese, Barry Moore, Colin Batchelor, et al.
BMC Bioinformatics|February 22, 2018
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization toolSteven Flygare, Edgar Javier Hernandez, Lon Phan, et al.
American Journal of Human Genetics|April 8, 2014
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear familiesMarc V Singleton, Stephen L Guthery, Karl V Voelkerding, et al.
NPJ Genomic Medicine|June 12, 2025
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admissionBennet Peterson, Edwin F Juarez, Barry Moore, et al.
Genome Biology|August 24, 2006
EGASP: the human ENCODE Genome Annotation Assessment ProjectRoderic Guigó, Paul Flicek, Josep F Abril, et al.
Nature Biotechnology|May 20, 2014
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence dataHao Hu, Jared C Roach, Hilary Coon, et al.
Genome Medicine|October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseasesFrancisco M De La Vega, Shimul Chowdhury, Barry Moore, et al.
NPJ Genomic Medicine|July 2, 2025
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare systemIsabelle A Lucas Beckett, Kate R Emery, Josiah T Wagner, et al.
American Journal of Human Genetics|October 9, 2012
Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variationJeffrey M Kidd, Simon Gravel, Jake Byrnes, et al.
Nature Biotechnology|November 10, 2012
Assuring the quality of next-generation sequencing in clinical laboratory practiceAmy S Gargis, Lisa Kalman, Meredith W Berry, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Genome Biology|August 28, 2010
A standard variation file format for human genome sequencesMartin G Reese, Barry Moore, Colin Batchelor, et al.
BMC Bioinformatics|February 22, 2018
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization toolSteven Flygare, Edgar Javier Hernandez, Lon Phan, et al.
American Journal of Human Genetics|April 8, 2014
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear familiesMarc V Singleton, Stephen L Guthery, Karl V Voelkerding, et al.
NPJ Genomic Medicine|June 12, 2025
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admissionBennet Peterson, Edwin F Juarez, Barry Moore, et al.
Genome Biology|August 24, 2006
EGASP: the human ENCODE Genome Annotation Assessment ProjectRoderic Guigó, Paul Flicek, Josep F Abril, et al.
Nature Biotechnology|May 20, 2014
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence dataHao Hu, Jared C Roach, Hilary Coon, et al.
Genome Medicine|October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseasesFrancisco M De La Vega, Shimul Chowdhury, Barry Moore, et al.
NPJ Genomic Medicine|July 2, 2025
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare systemIsabelle A Lucas Beckett, Kate R Emery, Josiah T Wagner, et al.
American Journal of Human Genetics|October 9, 2012
Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variationJeffrey M Kidd, Simon Gravel, Jake Byrnes, et al.
Nature Biotechnology|November 10, 2012
Assuring the quality of next-generation sequencing in clinical laboratory practiceAmy S Gargis, Lisa Kalman, Meredith W Berry, et al.
Pageof 3