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

Massively parallel characterization of transcriptional regulatory elements

转录调控元件的大规模并行表征

Agarwal, Vikram; Inoue, Fumitaka; Schubach, Max; Penzar, Dmitry; Martin, Beth K; Dash, Pyaree Mohan; Keukeleire, Pia; Zhang, Zicong; Sohota, Ajuni; Zhao, Jingjing; Georgakopoulos-Soares, Ilias; Noble, William S; Yardımcı, Galip Gürkan; Kulakovskiy, Ivan V; Kircher, Martin; Shendure, Jay; Ahituv, Nadav

Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity.

大规模平行报告基因检测和转基因小鼠检测提供了关于神经元增强子活性的相关和互补信息

Kosicki Michael, Laboy Cintrón Dianne, 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

Using individual barcodes to increase quantification power of massively parallel reporter assays

利用单个条形码提高大规模并行报告基因检测的定量能力

Keukeleire, Pia; Rosen, Jonathan D; Göbel-Knapp, Angelina; Salomon, Kilian; Schubach, Max; Kircher, Martin

Uniform processing and analysis of IGVF massively parallel reporter assay data with MPRAsnakeflow

利用 MPRAsnakeflow 对 IGVF 大规模并行报告基因检测数据进行统一处理和分析

Rosen, Jonathan D; Vasanthakumari, Arjun Devadas; Salomon, Kilian; de Lange, Nikola; Dash, Pyaree Mohan; Keukeleire, Pia; Hassan, Ali; Barrera, Alejandro; Kircher, Martin; Love, Michael I; Schubach, Max

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

CADD v1.7:利用蛋白质语言模型、调控卷积神经网络和其他核苷酸水平评分来改进全基因组变异预测

Schubach, Max; Maass, Thorben; Nazaretyan, Lusiné; Röner, Sebastian; Kircher, Martin

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders

成人低骨量疾病常规骨骼评估中的基因诊断

Oheim, Ralf; Tsourdi, Elena; Seefried, Lothar; Beller, Gisela; Schubach, Max; Vettorazzi, Eik; Stürznickel, Julian; Rolvien, Tim; Ehmke, Nadja; Delsmann, Alena; Genest, Franca; Krüger, Ulrike; Zemojtel, Tomasz; Barvencik, Florian; Schinke, Thorsten; Jakob, Franz; Hofbauer, Lorenz C; Mundlos, Stefan; Kornak, Uwe

The Regulatory Mendelian Mutation score for GRCh38

GRCh38 的调控性孟德尔突变评分

Schubach, Max; Nazaretyan, Lusiné; Kircher, Martin

Boosting tissue-specific prediction of active cis-regulatory regions through deep learning and Bayesian optimization techniques

利用深度学习和贝叶斯优化技术增强组织特异性活性顺式调控区域的预测

Cappelletti, Luca; Petrini, Alessandro; Gliozzo, Jessica; Casiraghi, Elena; Schubach, Max; Kircher, Martin; Valentini, Giorgio

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores

CADD-Splice:利用深度学习衍生的剪接评分改进全基因组变异效应预测

Rentzsch, Philipp; Schubach, Max; Shendure, Jay; Kircher, Martin

parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants

parSMURF,一种用于全基因组致病变异检测的高性能计算工具

Petrini, Alessandro; Mesiti, Marco; Schubach, Max; Frasca, Marco; Danis, Daniel; Re, Matteo; Grossi, Giuliano; Cappelletti, Luca; Castrignanò, Tiziana; Robinson, Peter N; Valentini, Giorgio