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Tom Kamphans

Showing results (1-10 of 12) with videos related to

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Bioinformatics (Oxford, England)|July 25, 2012
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomesTom Kamphans, Peter M Krawitz
Bioinformatics (Oxford, England)|August 28, 2016
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing dataVerena Heinrich, Tom Kamphans, Stefan Mundlos, et al.
Integrative Biology : Quantitative Biosciences From Nano to Macro|September 29, 2011
An extended bioreaction database that significantly improves reconstruction and analysis of genome-scale metabolic networksMichael Stelzer, Jibin Sun, Tom Kamphans, et al.
Genome Medicine|August 2, 2013
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projectsVerena Heinrich, Tom Kamphans, Jens Stange, et al.
Plos One|August 14, 2013
Filtering for compound heterozygous sequence variants in non-consanguineous pedigreesTom Kamphans, Peggy Sabri, Na Zhu, et al.
Bioinformatics (Oxford, England)|August 8, 2015
Strategies to improve the performance of rare variant association studies by optimizing the selection of controlsNa Zhu, Verena Heinrich, Thorsten Dickhaus, et al.
Journal of Inherited Metabolic Disease|April 7, 2018
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolismJean T Pantel, Max Zhao, Martin A Mensah, et al.
NAR Genomics and Bioinformatics|September 13, 2021
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graphChengyao Peng, Simon Dieck, Alexander Schmid, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2019
PEDIA: prioritization of exome data by image analysisTzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Bioinformatics (Oxford, England)|July 25, 2012
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomesTom Kamphans, Peter M Krawitz
Bioinformatics (Oxford, England)|August 28, 2016
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing dataVerena Heinrich, Tom Kamphans, Stefan Mundlos, et al.
Integrative Biology : Quantitative Biosciences From Nano to Macro|September 29, 2011
An extended bioreaction database that significantly improves reconstruction and analysis of genome-scale metabolic networksMichael Stelzer, Jibin Sun, Tom Kamphans, et al.
Genome Medicine|August 2, 2013
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projectsVerena Heinrich, Tom Kamphans, Jens Stange, et al.
Plos One|August 14, 2013
Filtering for compound heterozygous sequence variants in non-consanguineous pedigreesTom Kamphans, Peggy Sabri, Na Zhu, et al.
Bioinformatics (Oxford, England)|August 8, 2015
Strategies to improve the performance of rare variant association studies by optimizing the selection of controlsNa Zhu, Verena Heinrich, Thorsten Dickhaus, et al.
Journal of Inherited Metabolic Disease|April 7, 2018
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolismJean T Pantel, Max Zhao, Martin A Mensah, et al.
NAR Genomics and Bioinformatics|September 13, 2021
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graphChengyao Peng, Simon Dieck, Alexander Schmid, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2019
PEDIA: prioritization of exome data by image analysisTzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
Pageof 2