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1 Ergebnisse
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PSAP-genomic-regions: a method leveraging population data t..:
Ogloblinsky, Marie-Sophie
;
Bocher, Ozvan
;
Aloui, Chaker
...
info:eu-repo/semantics/altIdentifier/doi/10.1101/2024.02.13.580050. , 2024
Link:
https://hal.science/hal-04478324
RT Journal T1
PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis
UL https://suche.suub.uni-bremen.de/peid=base-ftunivparis:oai:HAL:hal-04478324v1&Exemplar=1&LAN=DE A1 Ogloblinsky, Marie-Sophie A1 Bocher, Ozvan A1 Aloui, Chaker A1 Leutenegger, Anne-Louise A1 Ozisik, Ozan A1 Baudot, Anaïs A1 Tournier-Lasserve, Elisabeth A1 Castillo-Madeen, Helen A1 Lewinsohn, Daniel A1 Conrad, Donald A1 Génin, Emmanuelle A1 Marenne, Gaëlle PB HAL CCSD YR 2024 K1 Variant prioritization K1 Rare disease K1 Non-coding genome K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1101/2024.02.13.580050 LK http://dx.doi.org/https://hal.science/hal-04478324 DO https://hal.science/hal-04478324 SF ELIB - SuUB Bremen
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