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David N Cooper

Showing results (381-390 of 398) with videos related to

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Biorxiv : the Preprint Server for Biology|June 19, 2024
Critical assessment of missense variant effect predictors on disease-relevant variant dataRuchir Rastogi, Ryan Chung, Sindy Li, et al.
Human Genomics|December 9, 2017
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patientsKonstantinos Mitropoulos, Eleni Merkouri Papadima, Georgia Xiromerisiou, et al.
Human Genetics|March 21, 2025
Critical assessment of missense variant effect predictors on disease-relevant variant dataRuchir Rastogi, Ryan Chung, Sindy Li, et al.
Genome Biology|September 16, 2011
The functional spectrum of low-frequency coding variationGabor T Marth, Fuli Yu, Amit R Indap, et al.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Nature Communications|April 20, 2023
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patientsYiming Wu, Kyle Gettler, Meltem Ece Kars, et al.
Nature Genetics|June 1, 2005
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutationsGuillaume Vogt, Ariane Chapgier, Kun Yang, et al.
Nature Biotechnology|October 18, 2011
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaquesGuangmei Yan, Guojie Zhang, Xiaodong Fang, et al.
Science (New York, N.Y.)|May 9, 2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptomeManuel A Rivas, Matti Pirinen, Donald F Conrad, et al.
Nature Genetics|July 4, 2012
The yak genome and adaptation to life at high altitudeQiang Qiu, Guojie Zhang, Tao Ma, et al.
Pageof 40

Showing results (381-390 of 398) with videos related to

Sort By:
Pageof 40
Biorxiv : the Preprint Server for Biology|June 19, 2024
Critical assessment of missense variant effect predictors on disease-relevant variant dataRuchir Rastogi, Ryan Chung, Sindy Li, et al.
Human Genomics|December 9, 2017
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patientsKonstantinos Mitropoulos, Eleni Merkouri Papadima, Georgia Xiromerisiou, et al.
Human Genetics|March 21, 2025
Critical assessment of missense variant effect predictors on disease-relevant variant dataRuchir Rastogi, Ryan Chung, Sindy Li, et al.
Genome Biology|September 16, 2011
The functional spectrum of low-frequency coding variationGabor T Marth, Fuli Yu, Amit R Indap, et al.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Nature Communications|April 20, 2023
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patientsYiming Wu, Kyle Gettler, Meltem Ece Kars, et al.
Nature Genetics|June 1, 2005
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutationsGuillaume Vogt, Ariane Chapgier, Kun Yang, et al.
Nature Biotechnology|October 18, 2011
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaquesGuangmei Yan, Guojie Zhang, Xiaodong Fang, et al.
Science (New York, N.Y.)|May 9, 2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptomeManuel A Rivas, Matti Pirinen, Donald F Conrad, et al.
Nature Genetics|July 4, 2012
The yak genome and adaptation to life at high altitudeQiang Qiu, Guojie Zhang, Tao Ma, et al.
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