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

SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing

SAVANA:利用长读长测序技术对体细胞结构变异和拷贝数异常进行可靠分析

Hillary Elrick # ,Carolin M Sauer # ,Jose Espejo Valle-Inclan ,Katherine Trevers ,Melanie Tanguy ,Sonia Zumalave ,Solange De Noon ,Francesc Muyas ,Rita Cascão ,Angela Afonso ,Alistair G Rust ,Fernanda Amary ,Roberto Tirabosco ,Adam Giess ,Timothy Freeman ,Alona Sosinsky ,Katherine Piculell ,David T Miller ,Claudia C Faria ,Greg Elgar ,Adrienne M Flanagan ,Isidro Cortes-Ciriano

ERα-associated translocations underlie oncogene amplifications in breast cancer

ERα 相关易位是乳腺癌致癌基因扩增的基础

Jake June-Koo Lee, Youngsook Lucy Jung #, Taek-Chin Cheong #, Jose Espejo Valle-Inclan, Chong Chu, Doga C Gulhan, Viktor Ljungström, Hu Jin, Vinayak V Viswanadham, Emma V Watson, Isidro Cortés-Ciriano, Stephen J Elledge, Roberto Chiarle, David Pellman, Peter J Park7

Non-homologous end joining shapes the genomic rearrangement landscape of chromothripsis from mitotic errors

非同源末端连接塑造有丝分裂错误引起的染色体碎裂的基因组重排景观

Qing Hu, Jose Espejo Valle-Inclan, Rashmi Dahiya, Alison Guyer, Alice Mazzagatti, Elizabeth G Maurais, Justin L Engel, Isidro Cortés-Ciriano, Peter Ly

A multi-platform reference for somatic structural variation detection

用于体细胞结构变异检测的多平台参考

Espejo Valle-Inclan, Jose; Besselink, Nicolle J M; de Bruijn, Ewart; Cameron, Daniel L; Ebler, Jana; Kutzera, Joachim; van Lieshout, Stef; Marschall, Tobias; Nelen, Marcel; Priestley, Peter; Renkens, Ivo; Roemer, Margaretha G M; van Roosmalen, Markus J; Wenger, Aaron M; Ylstra, Bauke; Fijneman, Remond J A; Kloosterman, Wigard P; Cuppen, Edwin

Patient-derived organoids model cervical tissue dynamics and viral oncogenesis in cervical cancer

患者来源的类器官模拟宫颈组织动力学和宫颈癌中的病毒致癌作用

Kadi Lõhmussaar, Rurika Oka, Jose Espejo Valle-Inclan, Milou H H Smits, Hila Wardak, Jeroen Korving, Harry Begthel, Natalie Proost, Marieke van de Ven, Onno W Kranenburg, Trudy G N Jonges, Ronald P Zweemer, Sebastiaan Veersema, Ruben van Boxtel, Hans Clevers

Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients

优化基于纳米孔测序的结构变异检测方法,可实现基于循环肿瘤DNA的个体化癌症患者疾病监测。

Valle-Inclan, Jose Espejo; Stangl, Christina; de Jong, Anouk C; van Dessel, Lisanne F; van Roosmalen, Markus J; Helmijr, Jean C A; Renkens, Ivo; Janssen, Roel; de Blank, Sam; de Witte, Chris J; Martens, John W M; Jansen, Maurice P H M; Lolkema, Martijn P; Kloosterman, Wigard P

GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural variant phasing

GRIDSS2:利用单断裂端变异和结构变异定相技术对体细胞结构变异进行全面表征

Cameron, Daniel L; Baber, Jonathan; Shale, Charles; Valle-Inclan, Jose Espejo; Besselink, Nicolle; van Hoeck, Arne; Janssen, Roel; Cuppen, Edwin; Priestley, Peter; Papenfuss, Anthony T

Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing

通过多重 CRISPR-Cas9 富集和长读纳米孔测序检测伴侣独立的融合基因

Christina Stangl, Sam de Blank, Ivo Renkens, Liset Westera, Tamara Verbeek, Jose Espejo Valle-Inclan, Rocio Chamorro González, Anton G Henssen, Markus J van Roosmalen, Ronald W Stam, Emile E Voest, Wigard P Kloosterman, Gijs van Haaften #, Glen R Monroe #0

An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

卵巢癌类器官平台可捕捉患者内部和患者之间的异质性

Oded Kopper, Chris J de Witte, Kadi Lõhmussaar, Jose Espejo Valle-Inclan, Nizar Hami, Lennart Kester, Anjali Vanita Balgobind, Jeroen Korving, Natalie Proost, Harry Begthel, Lise M van Wijk, Sonia Aristín Revilla, Rebecca Theeuwsen, Marieke van de Ven, Markus J van Roosmalen, Bas Ponsioen, Victor W

Long-Read Annotation: Automated Eukaryotic Genome Annotation Based on Long-Read cDNA Sequencing

长读注释:基于长读 cDNA 测序的自动真核基因组注释

David E Cook, Jose Espejo Valle-Inclan, Alice Pajoro, Hanna Rovenich, Bart P H J Thomma, Luigi Faino