Künstliche Intelligenz bei der Diagnose Seltener Erkrankungen: die Entwicklung der Phänotyp-Analyse

por Krawitz, Peter M.
Publicado 2022

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

por Kamphans, Tom, Krawitz, Peter M.
Publicado 2012

A statistical boosting framework for polygenic risk scores based on large-scale genotype data

por Klinkhammer, Hannah, Staerk, Christian, Maj, Carlo, Krawitz, Peter Michael, Mayr, Andreas
Publicado 2023

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

por Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M
Publicado 2017

Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history

por Hassanin, Emadeldin, Maj, Carlo, Klinkhammer, Hannah, Krawitz, Peter, May, Patrick, Bobbili, Dheeraj Reddy
Publicado 2023

Integrative analysis of key candidate genes and signaling pathways in autoimmune thyroid dysfunction related to anti-CTLA-4 therapy by bioinformatics

por Zhang, Ying, Garofano, Francesca, Wu, Xiaolong, Schmid, Matthias, Krawitz, Peter, Essler, Markus, Schmidt-Wolf, Ingo G. H.
Publicado 2020

Gene-based burden scores identify rare variant associations for 28 blood biomarkers

por Aldisi, Rana, Hassanin, Emadeldin, Sivalingam, Sugirthan, Buness, Andreas, Klinkhammer, Hannah, Mayr, Andreas, Fröhlich, Holger, Krawitz, Peter, Maj, Carlo
Publicado 2023

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

por Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N., Parkhomchuk, Dmitri, Krawitz, Peter M.
Publicado 2013

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

por Heinrich, Verena, Kamphans, Tom, Stange, Jens, Parkhomchuk, Dmitri, Hecht, Jochen, Dickhaus, Thorsten, Robinson, Peter N, Krawitz, Peter M
Publicado 2013

GenRisk: a tool for comprehensive genetic risk modeling

por Aldisi, Rana, Hassanin, Emadeldin, Sivalingam, Sugirthan, Buness, Andreas, Klinkhammer, Hannah, Mayr, Andreas, Fröhlich, Holger, Krawitz, Peter, Maj, Carlo
Publicado 2022

AI-based multi-PRS models outperform classical single-PRS models

por Klau, Jan Henric, Maj, Carlo, Klinkhammer, Hannah, Krawitz, Peter M., Mayr, Andreas, Hillmer, Axel M., Schumacher, Johannes, Heider, Dominik
Publicado 2023

Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course

por Kallinich, Tilmann, Thorwarth, Anne, von Stuckrad, Sae-Lim, Rösen-Wolff, Angela, Luksch, Hella, Hundsdoerfer, Patrick, Minden, Kirsten, Krawitz, Peter
Publicado 2016

Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function

por Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars
Publicado 2017

Combining callers improves the detection of copy number variants from whole-genome sequencing

por Coutelier, Marie, Holtgrewe, Manuel, Jäger, Marten, Flöttman, Ricarda, Mensah, Martin A., Spielmann, Malte, Krawitz, Peter, Horn, Denise, Beule, Dieter, Mundlos, Stefan
Publicado 2021

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

por Heinrich, Verena, Stange, Jens, Dickhaus, Thorsten, Imkeller, Peter, Krüger, Ulrike, Bauer, Sebastian, Mundlos, Stefan, Robinson, Peter N., Hecht, Jochen, Krawitz, Peter M.
Publicado 2012

Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss

por Henne, Sabrina Katrin, Aldisi, Rana, Sivalingam, Sugirthan, Hochfeld, Lara Maleen, Borisov, Oleg, Krawitz, Peter Michael, Maj, Carlo, Nöthen, Markus Maria, Heilmann-Heimbach, Stefanie
Publicado 2023

Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders

por Rödelsperger, Christian, Krawitz, Peter, Bauer, Sebastian, Hecht, Jochen, Bigham, Abigail W., Bamshad, Michael, de Condor, Birgit Jonske, Schweiger, Michal R., Robinson, Peter N.
Publicado 2011

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

por Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.
Publicado 2020

Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals

por Dieck, Simon, Ibarra, Miguel, Moghul, Ismail, Yeung, Ming Wai, Pantel, Jean Tori, Thiele, Sarah, Pfau, Maximilian, Fleckenstein, Monika, Pontikos, Nikolas, Krawitz, Peter M.
Publicado 2020

Reconstruction of the origin of the first major SARS-CoV-2 outbreak in Germany

por Korencak, Marek, Sivalingam, Sugirthan, Sahu, Anshupa, Dressen, Dietmar, Schmidt, Axel, Brand, Fabian, Krawitz, Peter, Hart, Libor, Maria Eis-Hübinger, Anna, Buness, Andreas, Streeck, Hendrik
Publicado 2022