Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

Détails

Ressource 1Télécharger: 24389049_BIB_F69325586088.pdf (909.29 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY-NC 4.0
ID Serval
serval:BIB_F69325586088
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
UNIL/CHUV
Titre
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
Périodique
Genome Res
Auteur⸱e⸱s
Santoni F. A., Makrythanasis P., Nikolaev S., Guipponi M., Robyr D., Bottani A., Antonarakis S. E.
ISSN
1549-5469 (Electronic)
ISSN-L
1088-9051
Statut éditorial
Publié
Date de publication
02/2014
Volume
24
Numéro
2
Pages
349-55
Langue
anglais
Mots-clé
Algorithms, Computational Biology/methods, Databases, Genetic, Gene Frequency, *Genetic Predisposition to Disease, Genotype, Humans, INDEL Mutation/*genetics, Phenotype, Polymorphism, Single Nucleotide/*genetics, Sequence Analysis, DNA, *Software
URN
urn:nbn:ch:serval-BIB_F693255860887
OAI-PMH
oai:serval.unil.ch:BIB_F69325586088
DOI
10.1101/gr.163832.113
Pubmed
24389049
Création de la notice
20/05/2019 13:40
Dernière modification de la notice
23/11/2022 8:17
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