nf-core/raredisease : a community driven opensource pipeline for raredisease diagnostics

Neethiraj, Ramprasad; Jemt, Anders; Pena-Perez, Lucia; Wu, Mei; Renevey, Annick; Breton, Gwenna; Rahimi, Sima; Andersson, Emma; Mesilaakso, Lauri; Kosalai, Subazini Thankaswamy; Bertilsson, Emil; Kennedy, Ryan; Henmyr, Viktor; Stranneheim, Henrik; Wirta, Valtteri

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nf-core/raredisease: a community driven opensource pipeline for raredisease diagnostics

Neethiraj, Ramprasad

KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology. KTH, Centres, Science for Life Laboratory, SciLifeLab.

Jemt, Anders

Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Stockholm, Sweden.;Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden..

Pena-Perez, Lucia

Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Stockholm, Sweden.;Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden.;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..

Wu, Mei

Univ Washington, Dept Genome Sci, Seattle, WA USA..

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2024 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 32, p. 648-648Article in journal, Meeting abstract (Other academic) Published

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Springer Nature , 2024. Vol. 32, p. 648-648

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Other Health Sciences

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URN: urn:nbn:se:kth:diva-344079ISI: 001147414903211OAI: oai:DiVA.org:kth-344079DiVA, id: diva2:1841928

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56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), JUN 10-13, 2023, Glasgow, SCOTLAND

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QC 20240304

Available from: 2024-03-01 Created: 2024-03-01 Last updated: 2024-03-04Bibliographically approved

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Neethiraj, Ramprasad

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Neethiraj, Ramprasad

Jemt, Anders

Pena-Perez, Lucia

Wu, Mei

Renevey, Annick

Breton, Gwenna

Rahimi, Sima

Andersson, Emma

Mesilaakso, Lauri

Kosalai, Subazini Thankaswamy

Bertilsson, Emil

Kennedy, Ryan

Henmyr, Viktor

Stranneheim, Henrik

Wirta, Valtteri

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