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DeepVariant as a variant caller to diagnose rare diseases
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 Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden.;Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Stockholm, Sweden..
Wirta, Valtteri
KTH, Centres, Science for Life Laboratory, SciLifeLab. KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology. Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden.;Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Stockholm, Sweden..
ORCID iD:
0000-0003-3811-5439
Stranneheim, Henrik
Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden.;Karolinska Inst, Dept Microbiol Tumour & Cell Biol, Sci Life Lab, Stockholm, Sweden.;Karolinska Univ Hosp, Ctr Inherited Metabol Dis, Stockholm, Sweden..
2023 (English)
In:
European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 31, p. 595-595
Article in journal, Meeting abstract (Other academic) Published
Place, publisher, year, edition, pages
Springer Nature , 2023. Vol. 31, p. 595-595
National Category
Genetics and Genomics
Identifiers
URN:
urn:nbn:se:kth:diva-339874
ISI:
001050507002106
OAI: oai:DiVA.org:kth-339874
DiVA, id:
diva2:1815149
Note
QC 20231128
Available from:
2023-11-28
Created:
2023-11-28
Last updated:
2025-02-07
Bibliographically approved
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Neethiraj, Ramprasad
Wirta, Valtteri
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