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

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Version: Final published version
License: CC BY-NC 4.0
Serval ID
serval:BIB_F69325586088
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
Journal
Genome Res
Author(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
Publication state
Published
Issued date
02/2014
Volume
24
Number
2
Pages
349-55
Language
english
Keywords
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
Create date
20/05/2019 12:40
Last modification date
23/11/2022 7:17
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