日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Structural variation in 1,019 diverse humans based on long-read sequencing

基于长读长测序的1019个不同人类样本的结构变异分析

Siegfried Schloissnig # ,Samarendra Pani # ,Jana Ebler ,Carsten Hain ,Vasiliki Tsapalou ,Arda Söylev ,Patrick Hüther ,Hufsah Ashraf ,Timofey Prodanov ,Mila Asparuhova ,Hugo Magalhães ,Wolfram Höps ,Jesus Emiliano Sotelo-Fonseca ,Tomas Fitzgerald ,Walter Santana-Garcia ,Ricardo Moreira-Pinhal ,Sarah Hunt ,Francy J Pérez-Llanos ,Tassilo Erik Wollenweber ,Sugirthan Sivalingam ,Dagmar Wieczorek ,Mario Cáceres ,Christian Gilissen ,Ewan Birney ,Zhihao Ding ,Jan Nygaard Jensen ,Nikhil Podduturi ,Jan Stutzki ,Bernardo Rodriguez-Martin ,Tobias Rausch ,Tobias Marschall ,Jan O Korbel

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

将新一代表型分析技术整合到国家级框架中,用于治疗罕见病患者,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

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

对英国生物银行72469个外显子组的分析发现,罕见变异与男性型脱发有关

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

Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

对450名肛门直肠畸形患者进行全基因组致病拷贝数变异鉴定

Fabian, Julia; Dworschak, Gabriel C; Waffenschmidt, Lea; Schierbaum, Luca; Bendixen, Charlotte; Heilmann-Heimbach, Stefanie; Sivalingam, Sugirthan; Buness, Andreas; Schwarzer, Nicole; Boemers, Thomas M; Schmiedeke, Eberhard; Neser, Jörg; Leonhardt, Johannes; Kosch, Ferdinand; Weih, Sandra; Gielen, Helen Maya; Hosie, Stuart; Kabs, Carmen; Palta, Markus; Märzheuser, Stefanie; Bode, Lena Marie; Lacher, Martin; Schäfer, Frank-Mattias; Stehr, Maximilian; Knorr, Christian; Ure, Benno; Kleine, Katharina; Rolle, Udo; Zaniew, Marcin; Phillip, Grote; Zwink, Nadine; Jenetzky, Ekkehart; Reutter, Heiko; Hilger, Alina C

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

基于基因的负担评分可识别28种血液生物标志物的罕见变异关联

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

NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling

NCBench:为基于DNA测序的变异检测提供开放、可重复、透明、可适应且持续的基准测试方法

Hanssen, Friederike; Gabernet, Gisela; Bäuerle, Famke; Stöcker, Bianca; Wiegand, Felix; Smith, Nicholas H; Mertes, Christian; Neogi, Avirup Guha; Brandhoff, Leon; Ossowski, Anna; Altmueller, Janine; Becker, Kerstin; Petzold, Andreas; Sturm, Marc; Stöcker, Tyll; Sivalingam, Sugirthan; Brand, Fabian; Schmidt, Axel; Buness, Andreas; Probst, Alexander J; Motameny, Susanne; Köster, Johannes

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

GestaltMatcher 利用面部表型描述符实现罕见病匹配。

Hsieh, Tzung-Chien; Bar-Haim, Aviram; Moosa, Shahida; Ehmke, Nadja; Gripp, Karen W; Pantel, Jean Tori; Danyel, Magdalena; Mensah, Martin Atta; Horn, Denise; Rosnev, Stanislav; Fleischer, Nicole; Bonini, Guilherme; Hustinx, Alexander; Schmid, Alexander; Knaus, Alexej; Javanmardi, Behnam; Klinkhammer, Hannah; Lesmann, Hellen; Sivalingam, Sugirthan; Kamphans, Tom; Meiswinkel, Wolfgang; Ebstein, Frédéric; Krüger, Elke; Küry, Sébastien; Bézieau, Stéphane; Schmidt, Axel; Peters, Sophia; Engels, Hartmut; Mangold, Elisabeth; Kreiß, Martina; Cremer, Kirsten; Perne, Claudia; Betz, Regina C; Bender, Tim; Grundmann-Hauser, Kathrin; Haack, Tobias B; Wagner, Matias; Brunet, Theresa; Bentzen, Heidi Beate; Averdunk, Luisa; Coetzer, Kimberly Christine; Lyon, Gholson J; Spielmann, Malte; Schaaf, Christian P; Mundlos, Stefan; Nöthen, Markus M; Krawitz, Peter M

Heterogeneity and excitability of BRAFV600E-induced tumors is determined by Akt/mTOR-signaling state and Trp53-loss

BRAFV600E诱导肿瘤的异质性和兴奋性取决于Akt/mTOR信号通路状态和Trp53缺失。

Cases-Cunillera, Silvia; van Loo, Karen M J; Pitsch, Julika; Quatraccioni, Anne; Sivalingam, Sugirthan; Salomoni, Paolo; Borger, Valeri; Dietrich, Dirk; Schoch, Susanne; Becker, Albert J

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

重构德国首次大规模SARS-CoV-2疫情的起源

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