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Genome Medicine
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October 27, 2020
Best practices for variant calling in clinical sequencing
Daniel C Koboldt
Frontiers in Genetics
|
July 5, 2022
Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data
Andrea Ciolfi, Viviana Caputo, Daniel C Koboldt, et al.
Current Protocols in Bioinformatics
|
January 2, 2015
Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection
Daniel C Koboldt, David E Larson, Richard K Wilson
Human Mutation
|
January 21, 2006
Distribution of human SNPs and its effect on high-throughput genotyping
Daniel C Koboldt, Raymond D Miller, Pui-Yan Kwok
Human Molecular Genetics
|
September 17, 2010
Analysis of next-generation genomic data in cancer: accomplishments and challenges
Li Ding, Michael C Wendl, Daniel C Koboldt, et al.
Briefings in Bioinformatics
|
June 4, 2010
Challenges of sequencing human genomes
Daniel C Koboldt, Li Ding, Elaine R Mardis, et al.
Annals of Neurology
|
February 15, 2020
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy
Daniel C Koboldt, Megan A Waldrop, Richard K Wilson, et al.
Frontiers in Genetics
|
July 1, 2021
Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report
Andrew D Franklin, Bimal P Chaudhari, Daniel C Koboldt, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
January 10, 2012
Massively parallel sequencing approaches for characterization of structural variation
Daniel C Koboldt, David E Larson, Ken Chen, et al.
Scientific Reports
|
March 17, 2015
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS
Karyn Meltz Steinberg, Bing Yu, Daniel C Koboldt, et al.
Page
of 14
Search research articles
Search
Showing results (1-10 of 135) with videos related to
Sort By:
Page
of 14
Genome Medicine
|
October 27, 2020
Best practices for variant calling in clinical sequencing
Daniel C Koboldt
Frontiers in Genetics
|
July 5, 2022
Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data
Andrea Ciolfi, Viviana Caputo, Daniel C Koboldt, et al.
Current Protocols in Bioinformatics
|
January 2, 2015
Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection
Daniel C Koboldt, David E Larson, Richard K Wilson
Human Mutation
|
January 21, 2006
Distribution of human SNPs and its effect on high-throughput genotyping
Daniel C Koboldt, Raymond D Miller, Pui-Yan Kwok
Human Molecular Genetics
|
September 17, 2010
Analysis of next-generation genomic data in cancer: accomplishments and challenges
Li Ding, Michael C Wendl, Daniel C Koboldt, et al.
Briefings in Bioinformatics
|
June 4, 2010
Challenges of sequencing human genomes
Daniel C Koboldt, Li Ding, Elaine R Mardis, et al.
Annals of Neurology
|
February 15, 2020
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy
Daniel C Koboldt, Megan A Waldrop, Richard K Wilson, et al.
Frontiers in Genetics
|
July 1, 2021
Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report
Andrew D Franklin, Bimal P Chaudhari, Daniel C Koboldt, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
January 10, 2012
Massively parallel sequencing approaches for characterization of structural variation
Daniel C Koboldt, David E Larson, Ken Chen, et al.
Scientific Reports
|
March 17, 2015
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS
Karyn Meltz Steinberg, Bing Yu, Daniel C Koboldt, et al.
Page
of 14