Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Robin Steinhaus"'
Autor:
Markus S. Ladewig, Julius O. B. Jacobsen, Alex H. Wagner, Daniel Danis, Baha El Kassaby, Michael Gargano, Tudor Groza, Michael Baudis, Robin Steinhaus, Dominik Seelow, Nikolaos E. Bechrakis, Christopher J. Mungall, Paul N. Schofield, Olivier Elemento, Lindsay Smith, Julie A. McMurry, Monica Munoz‐Torres, Melissa A. Haendel, Peter N. Robinson
Publikováno v:
Advanced Genetics, Vol 4, Iss 1, Pp n/a-n/a (2023)
Abstract The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an indiv
Externí odkaz:
https://doaj.org/article/8b38a05352e2438485566a378a383583
Autor:
Guy Karlebach, Peter Hansen, Diogo FT Veiga, Robin Steinhaus, Daniel Danis, Sheng Li, Olga Anczukow, Peter N Robinson
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-20 (2020)
Abstract We present Hierarchical Bayesian Analysis of Differential Expression and ALternative Splicing (HBA-DEALS), which simultaneously characterizes differential expression and splicing in cohorts. HBA-DEALS attains state of the art or better perfo
Externí odkaz:
https://doaj.org/article/0007505bb5ac496f9757719472ccbfeb
Autor:
Peter Hansen, Salaheddine Ali, Hannah Blau, Daniel Danis, Jochen Hecht, Uwe Kornak, Darío G. Lupiáñez, Stefan Mundlos, Robin Steinhaus, Peter N. Robinson
Publikováno v:
BMC Genomics, Vol 20, Iss 1, Pp 1-13 (2019)
Abstract Background Target enrichment combined with chromosome conformation capturing methodologies such as capture Hi-C (CHC) can be used to investigate spatial layouts of genomic regions with high resolution and at scalable costs. A common applicat
Externí odkaz:
https://doaj.org/article/2ca66004c38643a98fa7bbba03db426b
Autor:
Robin Steinhaus, Diogo Ft Veiga, Daniel Danis, Peter N. Robinson, Olga Anczuków, Sheng Li, Guy Karlebach, Peter Hansen
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-20 (2020)
Genome Biology
Genome Biology
We present Hierarchical Bayesian Analysis of Differential Expression and ALternative Splicing (HBA-DEALS), which simultaneously characterizes differential expression and splicing in cohorts. HBA-DEALS attains state of the art or better performance fo
Publikováno v:
Nucleic Acids Research
The temporal and spatial expression of genes is controlled by promoters and enhancers. Findings obtained over the last decade that not only promoters but also enhancers are characterized by bidirectional, divergent transcription have challenged the t
With the shift from SNP arrays to high-throughput sequencing, most researchers studying diseases in consanguineous families do not rely on linkage analysis any longer, but simply search for deleterious variants which are homozygous in all patients. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::794a25801085634a78e734b8f4903ce7
https://refubium.fu-berlin.de/handle/fub188/38551
https://refubium.fu-berlin.de/handle/fub188/38551
Autor:
Leslie Matalonga, Julius O.B. Jacobsen, Claus Weiland, Robin Steinhaus, Gareth Baynam, Michael Baudis, Nicole Vasilevsky, Mélanie Courtot, Damian Smedley, Kent Lloyd, Nomi L. Harris, Núria Queralt-Rosinach, Jacques S. Beckmann, Aly Khalifa, Jagadish Chandrabose Sundaramurthi, Nikolas Pontikos, Anastasios Siapos, Tudor Groza, Peter Krawitz, Daniel Danis, Sylvia Thun, Sebastian Koehler, Tiffany J. Callahan, Christopher J. Mungall, Lindsay Smith, Sergi Beltran, Monica C. Munoz-Torres, Robert R. Freimuth, Melissa Haendel, Marco Roos, Davide Piscia, Ada Hamosh, Christopher G. Chute, Anastasios Papakonstantinou, Alejandro Metke-Jimenez, Heikki Lehvaeslaiho, Jeremy L. Warner, Julie A. McMurry, Alex H. Wagner, Michael A. Gargano, Emilia M. Swietlik, Brian J Laraway, Paul N. Schofield, Peter N. Robinson, Rajaram Kaliyaperumal, Olivier Elemento, Soichi Ogishima
Despite great strides in the development and wide acceptance of standards for exchanging structured information about genomic variants, there is no corresponding standard for exchanging phenotypic data, and this has impeded the sharing of phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd4b2185624a9445f4ed13fb97ea1593
https://doi.org/10.1101/2021.11.27.21266944
https://doi.org/10.1101/2021.11.27.21266944
Publikováno v:
Nucleic Acids Research
With Aviator, we present a web service and repository that facilitates surveillance of online tools. Aviator consists of a user-friendly website and two modules, a literature-mining based general and a manually curated module. The general module curr
Autor:
Peter Hansen, Robin Steinhaus, Sheng Li, Peter N. Robinson, Guy Karlebach, Daniel Danis, Diogo F.T. Veiga, Olga Anczuków
The regulation of mRNA controls both overall gene expression as well as the distribution of mRNA isoforms encoded by the gene. Current algorithmic approaches focus on characterization of significant differential expression or alternative splicing eve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a069f25f2bdb2fae06ac9f3fa7d6633
https://doi.org/10.1101/2019.12.16.878884
https://doi.org/10.1101/2019.12.16.878884
Autor:
Uwe Kornak, Peter N. Robinson, Jochen Hecht, Stefan Mundlos, Daniel Danis, Salaheddine Ali, Hannah Blau, Darío G. Lupiáñez, Robin Steinhaus, Peter Hansen
Publikováno v:
BMC Genomics, Vol 20, Iss 1, Pp 1-13 (2019)
BMC Genomics
BMC Genomics
Background Target enrichment combined with chromosome conformation capturing methodologies such as capture Hi-C (CHC) can be used to investigate spatial layouts of genomic regions with high resolution and at scalable costs. A common application of CH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2226862fb660f21da46b8a1d762b163
http://hdl.handle.net/10230/36714
http://hdl.handle.net/10230/36714