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

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

纳米孔长读长测序作为检测神经系统疾病中重复序列扩增的一线诊断测试

de Boer Eddy N, Scheper Arjen J, Hendriksen Dennis, Charbon Bart, van der Vries Gerben, Ten Berge Annelies M, Grootscholten Petra M, Lemmink Henny H, Jongbloed Jan D H, Bosscher Laura, Knoers Nine V A M, Swertz Morris A, Sikkema-Raddatz Birgit, Dijkstra Dorieke J, Johansson Lennart F, van Diemen Cleo C

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods

MOLGENIS VIP:一个端到端的DNA变异解读流程,适用于研究和诊断,可配置以支持新方法的快速实施。

Maassen, Willem T K; Johansson, Lennart F; Charbon, Bart; Hendriksen, Dennis; van den Hoek, Sander; Slofstra, Mariska K; Mulder, Renée; Meems-Veldhuis, Martine T; Sietsma, Robert; Lemmink, Henny H; van Diemen, Cleo C; van Gijn, Mariëlle E; Swertz, Morris A; van der Velde, Kasper J

Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays

利用寡核苷酸芯片低成本生成临床级、非专业人士也能理解的药物遗传学护照

Lanting, Pauline; Warmerdam, Robert; Slager, Jelle; Brugge, Harm; Ochi, Taichi; Benjamins, Marloes; Lopera-Maya, Esteban; Jankipersadsing, Soesma; Gelderloos-Arends, Jody; Teuben, Daphne; Hendriksen, Dennis; Charbon, Bart; Johansson, Lennart; Munnink, Thijs Oude; de Boer-Veger, Nienke; Wilffert, Bob; Swertz, Morris; Touw, Daan; Deelen, Patrick; Knoers, Nine; Dekens, Jackie; Franke, Lude

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

CAPICE:一种用于临床外显子组变异致病性解释的计算方法,该方法无需考虑后果。

Li, Shuang; van der Velde, K Joeri; de Ridder, Dick; van Dijk, Aalt D J; Soudis, Dimitrios; Zwerwer, Leslie R; Deelen, Patrick; Hendriksen, Dennis; Charbon, Bart; van Gijn, Marielle E; Abbott, Kristin; Sikkema-Raddatz, Birgit; van Diemen, Cleo C; Kerstjens-Frederikse, Wilhelmina S; Sinke, Richard J; Swertz, Morris A

A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

一款便于流程化的基因组诊断软件工具,通过将患者症状与文献进行匹配来确定基因的优先级。

van der Velde, K Joeri; van den Hoek, Sander; van Dijk, Freerk; Hendriksen, Dennis; van Diemen, Cleo C; Johansson, Lennart F; Abbott, Kristin M; Deelen, Patrick; Sikkema-Raddatz, Birgit; Swertz, Morris A

MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians

MOLGENIS 研究:面向非生物信息学家的先进生物信息学数据软件

van der Velde, K Joeri; Imhann, Floris; Charbon, Bart; Pang, Chao; van Enckevort, David; Slofstra, Mariska; Barbieri, Ruggero; Alberts, Rudi; Hendriksen, Dennis; Kelpin, Fleur; de Haan, Mark; de Boer, Tommy; Haakma, Sido; Stroomberg, Connor; Scholtens, Salome; van de Geijn, Gert-Jan; Festen, Eleonora A M; Weersma, Rinse K; Swertz, Morris A

Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration

基因型协调器:用于基因型数据整合的自动链比对和格式转换

Deelen, Patrick; Bonder, Marc Jan; van der Velde, K Joeri; Westra, Harm-Jan; Winder, Erwin; Hendriksen, Dennis; Franke, Lude; Swertz, Morris A