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M

Martin Kircher

Berlin Institute of Health at Charite - Universitatsmedizin Berlin

59H指数
151论文数
4.1W被引数
收录论文 61
发表时间
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CADD-ThresholdApp: an interactive web application for calibrating CADD scores using ClinVarCADD-ThresholdApp：一个用于使用ClinVar校准CADD分数的交互式网络应用程序
errBMC Bioinformatics
IF3.3
err2026-09-24
err0
errOAAI
errCora Leifheit; Martin Kircher; Max Schubach
err分享
err收藏
Data biases in genomics基因组学中的数据偏差
errTrends in Genetics
IF16.3
err2026-04-06
err0
errOAAI
errLusine Nazaretyan; Martin Kircher
err分享
err收藏
varCADD: large sets of standing genetic variation enable genome-wide pathogenicity predictionvarCADD：大规模的群体遗传变异使全基因组致病性预测成为可能
errGenome Medicine
IF11.2
err2025-08-07
err0
PREAI
errLusiné Nazaretyan; Philipp Rentzsch; Martin Kircher
err分享
err收藏
Benchmarking machine learning methods for the identification of mislabeled data评估机器学习方法以识别错误标注数据
errArtificial Intelligence Review
IF13.9
err2025-07-15
err0
errOAAI
errLusine Nazaretyan; Ulf Leser; Martin Kircher
err分享
err收藏
Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity大规模并行报告者分析和小鼠转基因分析提供了关于神经元增强子活性的相关且互补的信息
errNATURE COMMUNICATIONS
IF15.7
err2025-05-23
err0
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
err分享
err收藏
cfDNA UniFlow: a unified preprocessing pipeline for cell-free DNA data from liquid biopsiescfDNA unifflow: 来自液体活检的无细胞DNA数据的统一预处理管道
errGIGASCIENCE
IF3.9
err2024-12-20
err0
errOAAI
errRoener, Sebastian; Burkard, Lea; Speicher, Michael R.; Kircher, Martin
err分享
err收藏
STIGMA: Single-cell tissue-specific gene prioritization using machine learning (vol 111, pg 338, 2024)柱头: 使用机器学习的单细胞组织特异性基因优先化 (111卷，338页，2024)
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-03-01
err0
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
err分享
err收藏
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-02-01
err2
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
err分享
err收藏
CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictionsCADD v1.7: 使用蛋白质语言模型，调控cnn和其他核苷酸水平评分来改善全基因组变异预测
errNUCLEIC ACIDS RESEARCH
IF13.1
err2024-01-05
err51
errOAAI
errSchubach, Max; Maass, Thorben; Nazaretyan, Lusine; Roener, Sebastian; Kircher, Martin
err分享
err收藏
GCparagon: evaluating and correcting GC biases in cell-free DNA at the fragment levelGcpagon: 在片段水平上评估和校正无细胞DNA中的GC偏差
errgenomics proteomics bioinformatics
IF2.8
err2023-11-18
err1
errOAAI
errSpiegl, Benjamin; Kapidzic, Faruk; Roener, Sebastian; Kircher, Martin; Speicher, Michael R.
err分享
err收藏
The Regulatory Mendelian Mutation score for GRCh38
errGIGASCIENCE
IF3.9
err2023-04-21
err0
errOAAI
errSchubach, Max; Nazaretyan, Lusine; Kircher, Martin
err分享
err收藏
Machine learning dissection of human accelerated regions in primate neurodevelopment灵长类动物神经发育中人类加速区域的机器学习解剖
errNEURON
IF15
err2023-03-01
err33
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.
err分享
err收藏
Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States参加 “我的生活，我们的未来血友病基因分型计划” 的11名341参与者的遗传分析结果
errJOURNAL OF THROMBOSIS AND HAEMOSTASIS
IF5
err2022-09-01
err21
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.
err分享
err收藏
A framework to score the effects of structural variants in health and disease一个评估结构变异对健康和疾病影响的框架
errGENOME RESEARCH
IF5.5
err2022-02-23
err20
errOAAI
errKleinert, Philip; Kircher, Martin
err分享
err收藏
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scoresCADD-剪接-使用深度学习衍生的剪接分数改善全基因组变异效应预测
errGENOME MEDICINE
IF11.2
err2021-02-22
err395
errOAAI
errRentzsch, Philipp; Schubach, Max; Shendure, Jay; Kircher, Martin
err分享
err收藏
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements (vol 15, 2387, 2020)
errNATURE PROTOCOLS
IF16
err2020-10-30
err3
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
err分享
err收藏
A systematic evaluation of the design and context dependencies of massively parallel reporter assays大规模平行报告分析的设计和上下文依赖性的系统评估
errNATURE METHODS
IF32.1
err2020-10-12
err116
errOAAI
errKlein, Jason C.; Agarwal, Vikram; Inoue, Fumitaka; Keith, Aidan; Martin, Beth; Kircher, Martin; Ahituv, Nadav; Shendure, Jay
err分享
err收藏
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elementslentiMPRA和MPRAflow用于基因调控元件的高通量功能表征
errNATURE PROTOCOLS
IF16
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
err分享
err收藏
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay
errHUMAN MUTATION
IF3.7
err2019-09-01
err43
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.
err分享
err收藏
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution单碱基对分辨率下二十种疾病相关调控元件的饱和诱变
errNATURE COMMUNICATIONS
IF15.7
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
err分享
err收藏

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