A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data

por Demidov, German, Simakova, Tamara, Vnuchkova, Julia, Bragin, Anton
Publicado 2016

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

por Fawcett, Katherine A., Demidov, German, Shrine, Nick, Paynton, Megan L., Ossowski, Stephan, Sayers, Ian, Wain, Louise V., Hollox, Edward J.
Publicado 2022

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation

por Susak, Hana, Serra-Saurina, Laura, Demidov, German, Rabionet, Raquel, Domènech, Laura, Bosio, Mattia, Muyas, Francesc, Estivill, Xavier, Escaramís, Geòrgia, Ossowski, Stephan
Publicado 2021

Allele balance bias identifies systematic genotyping errors and false disease associations

por Muyas, Francesc, Bosio, Mattia, Puig, Anna, Susak, Hana, Domènech, Laura, Escaramis, Georgia, Zapata, Luis, Demidov, German, Estivill, Xavier, Rabionet, Raquel, Ossowski, Stephan
Publicado 2018

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

por Demidov, German, Park, Joohyun, Armeanu‐Ebinger, Sorin, Roggia, Cristiana, Faust, Ulrike, Cordts, Isabell, Blandfort, Maria, Haack, Tobias B., Schroeder, Christopher, Ossowski, Stephan
Publicado 2021

Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients

por Hilke, Franz J., Sinnberg, Tobias, Gschwind, Axel, Niessner, Heike, Demidov, German, Amaral, Teresa, Ossowski, Stephan, Bonzheim, Irina, Röcken, Martin, Riess, Olaf, Garbe, Claus, Schroeder, Christopher, Forschner, Andrea
Publicado 2020

MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma

por Forschner, Andrea, Hilke, Franz-Joachim, Bonzheim, Irina, Gschwind, Axel, Demidov, German, Amaral, Teresa, Ossowski, Stephan, Riess, Olaf, Schroeder, Christopher, Martus, Peter, Klumpp, Bernhard, Gonzalez-Menendez, Irene, Garbe, Claus, Niessner, Heike, Sinnberg, Tobias
Publicado 2020

Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

por Park, Joohyun, Reilaender, Annemarie, Petry-Schmelzer, Jan N., Stöbe, Petra, Cordts, Isabell, Harmuth, Florian, Rautenberg, Maren, Woerz, Sarah E., Demidov, German, Sturm, Marc, Ossowski, Stephan, Schwaibold, Eva M.C., Wunderlich, Gilbert, Paus, Sebastian, Saft, Carsten, Haack, Tobias B.
Publicado 2021

Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

por São José, Celina, Garcia-Pelaez, José, Ferreira, Marta, Arrieta, Oscar, André, Ana, Martins, Nelson, Solís, Samantha, Martínez-Benítez, Braulio, Ordóñez-Sánchez, María Luisa, Rodríguez-Torres, Maribel, Sommer, Anna K., te Paske, Iris B. A. W., Caldas, Carlos, Tischkowitz, Marc, Tusié, Maria Teresa, Hoogerbrugge, Nicoline, Demidov, German, de Voer, Richarda M., Laurie, Steve, Oliveira, Carla
Publicado 2023

UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents

por Liebmann, Alexandra, Admard, Jakob, Armeanu-Ebinger, Sorin, Wild, Hannah, Abele, Michael, Gschwind, Axel, Seibel-Kelemen, Olga, Seitz, Christian, Bonzheim, Irina, Riess, Olaf, Demidov, German, Sturm, Marc, Schadeck, Malou, Pogoda, Michaela, Bien, Ewa, Krawczyk, Malgorzata, Jüttner, Eva, Mentzel, Thomas, Cesen, Maja, Pfaff, Elke, Kunc, Michal, Forchhammer, Stephan, Forschner, Andrea, Leiter-Stöppke, Ulrike, Eigentler, Thomas K., Schneider, Dominik T., Schroeder, Christopher, Ossowski, Stephan, Brecht, Ines B.
Publicado 2023

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients

por Schroeder, Christopher, Faust, Ulrike, Krauße, Luisa, Liebmann, Alexandra, Abele, Michael, Demidov, German, Schütz, Leon, Kelemen, Olga, Pohle, Alexandra, Gauß, Silja, Sturm, Marc, Roggia, Cristiana, Streiter, Monika, Buchert, Rebecca, Armenau-Ebinger, Sorin, Nann, Dominik, Beschorner, Rudi, Handgretinger, Rupert, Ebinger, Martin, Lang, Peter, Holzer, Ursula, Skokowa, Julia, Ossowski, Stephan, Haack, Tobias B., Mau-Holzmann, Ulrike A., Dufke, Andreas, Riess, Olaf, Brecht, Ines B.
Publicado 2023

Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome

por Shchukina, Irina, Bagaitkar, Juhi, Shpynov, Oleg, Loginicheva, Ekaterina, Porter, Sofia, Mogilenko, Denis A., Wolin, Erica, Collins, Patrick, Demidov, German, Artomov, Mykyta, Zaitsev, Konstantin, Sidorov, Sviatoslav, Camell, Christina, Bambouskova, Monika, Arthur, Laura, Swain, Amanda, Panteleeva, Alexandra, Dievskii, Aleksei, Kurbatsky, Evgeny, Tsurinov, Petr, Chernyatchik, Roman, Dixit, Vishwa Deep, Jovanovic, Marko, Stewart, Sheila A., Daly, Mark J., Dmitriev, Sergey, Oltz, Eugene M., Artyomov, Maxim N.
Publicado 2020

Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours

por Brenner, Ellen, Schörg, Barbara F., Ahmetlić, Fatima, Wieder, Thomas, Hilke, Franz Joachim, Simon, Nadine, Schroeder, Christopher, Demidov, German, Riedel, Tanja, Fehrenbacher, Birgit, Schaller, Martin, Forschner, Andrea, Eigentler, Thomas, Niessner, Heike, Sinnberg, Tobias, Böhm, Katharina S., Hömberg, Nadine, Braumüller, Heidi, Dauch, Daniel, Zwirner, Stefan, Zender, Lars, Sonanini, Dominik, Geishauser, Albert, Bauer, Jürgen, Eichner, Martin, Jarick, Katja J., Beilhack, Andreas, Biskup, Saskia, Döcker, Dennis, Schadendorf, Dirk, Quintanilla-Martinez, Leticia, Pichler, Bernd J., Kneilling, Manfred, Mocikat, Ralph, Röcken, Martin
Publicado 2020