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

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

卡罗林斯卡基因组医学中心关于罕见病基因组测序的十年报告及分阶段临床实施策略

Lindstrand, Anna; Lagerstedt-Robinson, Kristina; Jemt, Anders; Kvarnung, Malin; Ygberg, Sofia; Vonlanthen, Sofie; Oscarson, Mikael; Nilsson, Daniel; Lesko, Nicole; Mantero, Angelo Salazar; Anderlid, Britt-Marie; Arnell, Henrik; Arthur, Cecilia; Bajalica-Lagercrantz, Svetlana; Barbaro, Michela; Bergman, Peter; Björck, Erik; Picard, Oda Blomqvist; Bruhn, Helene; Carlsten, Jonas; Correia, Sandrina P; De Geer, Karl; Delgado Vega, Angelica M; Ehn, Emma; Eisfeldt, Jesper; Ek, Marlene; Elvers, Ingegerd; Engvall, Martin; Freyer, Christoph; Frisk, Sofia; Graff, Caroline; Grigelioniené, Giedré; Gustafsson, Peter; Hammarsjö, Anna; Helgadottir, Hafdis T; Hellström Pigg, Maritta; Henry, Olivia J; Hägglund, Moa; Iwarsson, Erik; Janvid, Vincent; Soller, Maria Johansson; Sundin, Leif; Kuchinskaya, Ekaterina; Kämpe, Anders; Leinfelt, Anna; Liedén, Agne; Lindelöf, Hillevi; Lyander, Anna; Malmgren, Helena; Mannila, Maria; Marits, Per; Naess, Karin; Neethiraj, Ramprasad; Nyren, Karl; Pappas, Christoforos; Paucar, Martin; Pekkola Pacheco, Nadja; Peña Perez, Lucia; Pettersson, Maria; Pruisscher, Peter; Rasi, Chiara; Renevey, Annick; Rössner, Sophia; Sahlin, Ellika; Stenund, Erik; Stödberg, Tommy; Sundin, Mikael; Svärd, Karl; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Töhönen, Virpi; Ueberschär, Malin; Wallander, Karin; Westenius, Eini; Winberg, Johanna; Winblad, Nerges; Wincent, Josephine; Winerdal, Malin; Wredenberg, Anna; Zetterlund, Anna; Zetterström, Rolf H; Öfverholm, Ingegerd; Nordgren, Ann; Stranneheim, Henrik; Wirta, Valtteri; Wedell, Anna

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis

Nallo:用于全面分析人类长读长基因组的 Nextflow 流程

Lenner, Felix; Jemt, Anders; Peña Pérez, Lucia; Neethiraj, Ramprasad; Pruisscher, Peter; Schmitz, Daniel; Renevey, Annick; Corcoran, Pádraic; Nilsson, Daniel; Eisfeldt, Jesper; Lindstrand, Anna; Wirta, Valtteri; Ameur, Adam; Feuk, Lars

Recommendations for bioinformatics in clinical practice

生物信息学在临床实践中的应用建议

Lavrichenko, Ksenia; Engdal, Emilie Sofie; Marvig, Rasmus L; Jemt, Anders; Vignes, Jone Marius; Almusa, Henrikki; Saether, Kristine Bilgrav; Briem, Eiríkur; Caceres, Eva; Elvarsdóttir, Edda María; Gíslason, Magnús Halldór; Haanpää, Maria K; Henmyr, Viktor; Hotakainen, Ronja; Kaasinen, Eevi; Kanninga, Roan; Khan, Sofia; Lie-Nielsen, Mary Gertrude; Madsen, Majbritt Busk; Mähler, Niklas; Maqbool, Khurram; Neethiraj, Ramprasad; Nyrén, Karl; Paavola, Minna; Pruisscher, Peter; Sheng, Ying; Singh, Ashish Kumar; Srivastava, Aashish; Stautland, Thomas K; Andreasen, Daniel T; de Boer, Esmee Ten Berk; Vang, Søren; Wirta, Valtteri; Bagger, Frederik Otzen

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y S; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A G; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J; Cederroth, Mikk; Nordgren, Ann

A transposable element insertion is associated with an alternative life history strategy

转座因子插入与替代生命史策略有关

Alyssa Woronik, Kalle Tunström, Michael W Perry, Ramprasad Neethiraj, Constanti Stefanescu, Maria de la Paz Celorio-Mancera, Oskar Brattström, Jason Hill, Philipp Lehmann, Reijo Käkelä, Christopher W Wheat

Unprecedented reorganization of holocentric chromosomes provides insights into the enigma of lepidopteran chromosome evolution

全中心染色体的前所未有的重组为鳞翅目染色体进化之谜提供了见解

Jason Hill, Pasi Rastas, Emily A Hornett, Ramprasad Neethiraj, Nathan Clark, Nathan Morehouse, Maria de la Paz Celorio-Mancera, Jofre Carnicer Cols, Heinrich Dircksen, Camille Meslin, Naomi Keehnen, Peter Pruisscher, Kristin Sikkink, Maria Vives, Heiko Vogel, Christer Wiklund, Alyssa Woronik, Carol

Evolutionary history of host use, rather than plant phylogeny, determines gene expression in a generalist butterfly

寄主利用的进化历史,而非植物的系统发育,决定了杂食性蝴蝶的基因表达。

Celorio-Mancera, Maria de la Paz; Wheat, Christopher W; Huss, Mikael; Vezzi, Francesco; Neethiraj, Ramprasad; Reimegård, Johan; Nylin, Sören; Janz, Niklas

De Novo transcriptome assembly (NGS) of Curcuma longa L. rhizome reveals novel transcripts related to anticancer and antimalarial terpenoids

姜黄根茎的从头转录组组装(NGS)揭示了与抗癌和抗疟疾萜类化合物相关的新转录本

Annadurai, Ramasamy S; Neethiraj, Ramprasad; Jayakumar, Vasanthan; Damodaran, Anand C; Rao, Sudha Narayana; Katta, Mohan A V S K; Gopinathan, Sreeja; Sarma, Santosh Prasad; Senthilkumar, Vanitha; Niranjan, Vidya; Gopinath, Ashok; Mugasimangalam, Raja C