A community developed pipeline for rare disease diagnostics

Jemt, Anders (author)

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

Neethiraj, Ramprasad (author)

KTH,Genteknologi,Science for Life Laboratory, SciLifeLab

Wu, Mei (author)

KTH,Science for Life Laboratory, SciLifeLab,Genteknologi

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Mesilaakso, Lauri (author)

Linköping Univ Hosp, Dept Clin Microbiol, Linköping, Sweden.

Renevey, Annick (author)

Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Solna, Sweden.

Breton, Gwenna (author)

Gothenburg Univ, Clin Genom Gothenburg, Sambio Core Facil, Gothenburg, Sweden.

Kosalai, Subazini Thankaswamy (author)

Örebro Univ Hosp, Dept Lab Med, Örebro, Sweden.

Rahimi, Sima (author)

Gothenburg Univ, Clin Genom Gothenburg, Sambio Core Facil, Gothenburg, Sweden.

Bertilsson, Emil (author)

Karolinska Univ Hosp, Genom Med Ctr Karolinska, Solna, Sweden.

Henmyr, Viktor (author)

Skane Univ Hosp, Lund, Sweden.

Wirta, Valtteri (author)

KTH,Science for Life Laboratory, SciLifeLab,Genteknologi,Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Solna, Sweden.;Karolinska Univ Hosp, Genom Med Ctr Karolinska, Solna, Sweden

Stranneheim, Henrik (author)

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

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Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Solna, Sweden;Karolinska Univ Hosp, Genom Med Ctr Karolinska, Solna, Sweden. Genteknologi (creator_code:org_t)

SPRINGERNATURE, 2023

2023

English.

In: European Journal of Human Genetics. - : SPRINGERNATURE. - 1018-4813 .- 1476-5438. ; 31, s. 614-614

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• Journal article (other academic/artistic)