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Martin Kircher

Berlin Institute of Health at Charité – Universitätsmedizin Berlin

59H-index
150Paper Count
4.1WCitation Count
Published Papers 60
Publication Date
Data biases in genomics
err2026-04-06
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errOAAI
errLusine Nazaretyan; Martin Kircher
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varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction
err2025-08-07
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PREAI
errLusiné Nazaretyan; Philipp Rentzsch; Martin Kircher
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Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity
err2025-05-23
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errOAAI
errKosicki, Michael; Cintron, Dianne Laboy; Keukeleire, Pia; Schubach, Max; Page, Nicholas F.; Georgakopoulos-Soares, Ilias; Akiyama, Jennifer A.; Plajzer-Frick, Ingrid; Novak, Catherine S.; Kato, Momoe; Hunter, Riana D.; von Maydell, Kianna; Barton, Sarah; Godfrey, Patrick; Beckman, Erik; Sanders, Stephan J.; Kircher, Martin; Pennacchio, Len A.; Ahituv, Nadav
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cfDNA UniFlow: a unified preprocessing pipeline for cell-free DNA data from liquid biopsies
err2024-12-20
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errOAAI
errRoener, Sebastian; Burkard, Lea; Speicher, Michael R.; Kircher, Martin
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STIGMA: Single-cell tissue-specific gene prioritization using machine learning (vol 111, pg 338, 2024)
err2024-03-01
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errOAAI
errBalachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte
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STIGMA: Single-cell tissue-specific gene prioritization using machine learning
err2024-02-01
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errOAAI
errBalachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte
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CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
err2024-01-05
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errOAAI
errSchubach, Max; Maass, Thorben; Nazaretyan, Lusine; Roener, Sebastian; Kircher, Martin
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GCparagon: evaluating and correcting GC biases in cell-free DNA at the fragment level
err2023-11-18
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errOAAI
errSpiegl, Benjamin; Kapidzic, Faruk; Roener, Sebastian; Kircher, Martin; Speicher, Michael R.
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The Regulatory Mendelian Mutation score for GRCh38
err2023-04-21
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errOAAI
errSchubach, Max; Nazaretyan, Lusine; Kircher, Martin
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Machine learning dissection of human accelerated regions in primate neurodevelopment
errNEURON
IF15
err2023-03-01
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errOAAI
errWhalen, Sean; Inoue, Fumitaka; Ryu, Hane; Fair, Tyler; Markenscoff-Papadimitriou, Eirene; Keough, Kathleen; Kircher, Martin; Martin, Beth; Alvarado, Beatriz; Elor, Orry; Cintron, Dianne Laboy; Williams, Alex; Samee, Abul Hassan; Thomas, Sean; Krencik, Robert; Ullian, Erik M.; Kriegstein, Arnold; Rubenstein, John L.; Shendure, Jay; Pollen, Alex A.; Ahituv, Nadav; Pollard, Katherine S.
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Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States
err2022-09-01
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PREAI
errJohnsen, Jill M.; Fletcher, Shelley N.; Dove, Angela; McCracken, Haley; Martin, Beth K.; Kircher, Martin; Josephson, Neil C.; Shendure, Jay; Ruuska, Sarah E.; Valentino, Leonard A.; Pierce, Glenn F.; Watson, Crystal; Cheng, Dunlei; Recht, Michael; Konkle, Barbara A.
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CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores
err2021-02-22
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errOAAI
errRentzsch, Philipp; Schubach, Max; Shendure, Jay; Kircher, Martin
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lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements (vol 15, 2387, 2020)
err2020-10-30
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errOAAI
errGordon, M. Grace; Inoue, Fumitaka; Martin, Beth; Schubach, Max; Agarwal, Vikram; Whalen, Sean; Feng, Shiyun; Zhao, Jingjing; Ashuach, Tal; Ziffra, Ryan; Kreimer, Anat; Georgakopoulos-Soares, Ilias; Yosef, Nir; Ye, Chun Jimmie; Pollard, Katherine S.; Shendure, Jay; Kircher, Martin; Ahituv, Nadav
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A systematic evaluation of the design and context dependencies of massively parallel reporter assays
err2020-10-12
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errOAAI
errKlein, Jason C.; Agarwal, Vikram; Inoue, Fumitaka; Keith, Aidan; Martin, Beth; Kircher, Martin; Ahituv, Nadav; Shendure, Jay
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lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements
err2020-07-08
err64
errOAAI
errGordon, M. Grace; Inoue, Fumitaka; Martin, Beth; Schubach, Max; Agarwal, Vikram; Whalen, Sean; Feng, Shiyun; Zhao, Jingjing; Ashuach, Tal; Ziffra, Ryan; Kreimer, Anat; Georgakopoulous-Soares, Ilias; Yosef, Nir; Ye, Chun Jimmie; Pollard, Katherine S.; Shendure, Jay; Kircher, Martin; Ahituv, Nadav
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Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay
err2019-09-01
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errOAAI
errShigaki, Dustin; Adato, Orit; Adhikari, Aashish N.; Dong, Shengcheng; Hawkins-Hooker, Alex; Inoue, Fumitaka; Juven-Gershon, Tamar; Kenlay, Henry; Martin, Beth; Patra, Ayoti; Penzar, Dmitry D.; Schubach, Max; Xiong, Chenling; Yan, Zhongxia; Boyle, Alan P.; Kreimer, Anat; Kulakoyskiy, Ivan, V; Reid, John; Unger, Ron; Yosef, Nir; Shendure, Jay; Ahituv, Nadav; Kirche, Martin; Beer, Michael A.
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Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
err2019-08-08
err143
errOAAI
errKircher, Martin; Xiong, Chenling; Martin, Beth; Schubach, Max; Inoue, Fumitaka; Bell, Robert J. A.; Costello, Joseph F.; Shendure, Jay; Ahituv, Nadav
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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
err2019-01-01
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errOAAI
errLacroix, Amy J.; Stabley, Deborah; Sahraoui, Rebecca; Adam, Margaret P.; Mehaffey, Michele; Kernan, Kelly; Myers, Candace T.; Fagerstrom, Carrie; Anadiotis, George; Akkari, Yassmine M.; Robbins, Katherine M.; Gripp, Karen W.; Baratela, Wagner Ar; Bober, Michael B.; Duker, Angela L.; Doherty, Dan; Dempsey, Jennifer C.; Miller, Daniel G.; Kircher, Martin; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Sol-Church, Katia
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