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Genomics Data
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December 13, 2016
Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells
Bernard J Pope, Khalid Mahmood, Chol-Hee Jung, et al.
Human Mutation
|
February 3, 2017
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX
Tessa Mattiske, Ching Moey, Lisenka E Vissers, et al.
Gastroenterology
|
January 9, 2025
DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers
Romy Walker, Jihoon E Joo, Khalid Mahmood, et al.
BMC Bioinformatics
|
April 17, 2016
UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing
Daniel J Park, Roger Li, Edmund Lau, et al.
Gigascience
|
December 7, 2018
Annotation of the Giardia proteome through structure-based homology and machine learning
Brendan R E Ansell, Bernard J Pope, Peter Georgeson, et al.
Human Genomics
|
May 18, 2017
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics
Khalid Mahmood, Chol-Hee Jung, Gayle Philip, et al.
International Journal of Molecular Sciences
|
October 18, 2018
sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data
Chol-Hee Jung, Daniel J Park, Peter Georgeson, et al.
Gigascience
|
September 24, 2019
Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software
Peter Georgeson, Anna Syme, Clare Sloggett, et al.
Familial Cancer
|
April 10, 2025
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation
Jihoon E Joo, Khalid Mahmood, Mark Clendenning, et al.
Molecular Genetics & Genomic Medicine
|
June 5, 2019
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome
Peter Georgeson, Michael D Walsh, Mark Clendenning, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 47) with videos related to
Sort By:
Page
of 5
Genomics Data
|
December 13, 2016
Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells
Bernard J Pope, Khalid Mahmood, Chol-Hee Jung, et al.
Human Mutation
|
February 3, 2017
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX
Tessa Mattiske, Ching Moey, Lisenka E Vissers, et al.
Gastroenterology
|
January 9, 2025
DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers
Romy Walker, Jihoon E Joo, Khalid Mahmood, et al.
BMC Bioinformatics
|
April 17, 2016
UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing
Daniel J Park, Roger Li, Edmund Lau, et al.
Gigascience
|
December 7, 2018
Annotation of the Giardia proteome through structure-based homology and machine learning
Brendan R E Ansell, Bernard J Pope, Peter Georgeson, et al.
Human Genomics
|
May 18, 2017
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics
Khalid Mahmood, Chol-Hee Jung, Gayle Philip, et al.
International Journal of Molecular Sciences
|
October 18, 2018
sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data
Chol-Hee Jung, Daniel J Park, Peter Georgeson, et al.
Gigascience
|
September 24, 2019
Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software
Peter Georgeson, Anna Syme, Clare Sloggett, et al.
Familial Cancer
|
April 10, 2025
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation
Jihoon E Joo, Khalid Mahmood, Mark Clendenning, et al.
Molecular Genetics & Genomic Medicine
|
June 5, 2019
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome
Peter Georgeson, Michael D Walsh, Mark Clendenning, et al.
Page
of 5