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Chris Bizon

Showing results (31-40 of 49) with videos related to

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BMC Genomics|February 1, 2014
Variant calling in low-coverage whole genome sequencing of a Native American population sampleChris Bizon, Michael Spiegel, Scott A Chasse, et al.
Plos One|December 18, 2018
Increasing the diagnostic yield of exome sequencing by copy number variant analysisDaniel S Marchuk, Kristy Crooks, Natasha Strande, et al.
Human Mutation|October 13, 2018
ClinGen advancing genomic data-sharing standards as a GA4GH driver projectLena Dolman, Angela Page, Lawrence Babb, et al.
Scientific Reports|June 2, 2026
The ROBOKOP v1.0 knowledge graph system for exploring relationships between biomedical entitiesKaramarie Fecho, Evan Morris, Jon-Michael Beasley, et al.
BMC Bioinformatics|July 21, 2021
Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencingDayne L Filer, Fengshen Kuo, Alicia T Brandt, et al.
Drug Discovery Today|February 19, 2022
Defining clinical outcome pathwaysDaniel Korn, Andrew J Thieme, Vinicius M Alves, et al.
Bioinformatics (Oxford, England)|April 20, 2022
Dug: a semantic search engine leveraging peer-reviewed knowledge to query biomedical data repositoriesAlexander M Waldrop, John B Cheadle, Kira Bradford, et al.
Human Mutation|October 13, 2018
ClinGen Allele Registry links information about genetic variantsPiotr Pawliczek, Ronak Y Patel, Lillian R Ashmore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2017
Prenatal exome sequencing in anomalous fetuses: new opportunities and challengesNeeta L Vora, Bradford Powell, Alicia Brandt, et al.
Genome Medicine|January 14, 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variantsRonak Y Patel, Neethu Shah, Andrew R Jackson, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
BMC Genomics|February 1, 2014
Variant calling in low-coverage whole genome sequencing of a Native American population sampleChris Bizon, Michael Spiegel, Scott A Chasse, et al.
Plos One|December 18, 2018
Increasing the diagnostic yield of exome sequencing by copy number variant analysisDaniel S Marchuk, Kristy Crooks, Natasha Strande, et al.
Human Mutation|October 13, 2018
ClinGen advancing genomic data-sharing standards as a GA4GH driver projectLena Dolman, Angela Page, Lawrence Babb, et al.
Scientific Reports|June 2, 2026
The ROBOKOP v1.0 knowledge graph system for exploring relationships between biomedical entitiesKaramarie Fecho, Evan Morris, Jon-Michael Beasley, et al.
BMC Bioinformatics|July 21, 2021
Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencingDayne L Filer, Fengshen Kuo, Alicia T Brandt, et al.
Drug Discovery Today|February 19, 2022
Defining clinical outcome pathwaysDaniel Korn, Andrew J Thieme, Vinicius M Alves, et al.
Bioinformatics (Oxford, England)|April 20, 2022
Dug: a semantic search engine leveraging peer-reviewed knowledge to query biomedical data repositoriesAlexander M Waldrop, John B Cheadle, Kira Bradford, et al.
Human Mutation|October 13, 2018
ClinGen Allele Registry links information about genetic variantsPiotr Pawliczek, Ronak Y Patel, Lillian R Ashmore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2017
Prenatal exome sequencing in anomalous fetuses: new opportunities and challengesNeeta L Vora, Bradford Powell, Alicia Brandt, et al.
Genome Medicine|January 14, 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variantsRonak Y Patel, Neethu Shah, Andrew R Jackson, et al.
Pageof 5