MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Year of publication

2018

Authors

Yauy, Kevin; Baux, David; Pegeot, Henri; Van Goethem, Charles; Mathieu, Charly; Guignard, Thomas; Morales, Raul Juntas; Lacourt, Delphine; Krahn, Martin; Lehtokari, Vilma-Lotta; Bonne, Gisele; Tuffery-Giraud, Sylvie; Koenig, Michel; Cossee, Mireille

Organizations and authors

University of Helsinki

Lehtokari Vilma-Lotta

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal/Series

Journal of Molecular Diagnostics

Parent publication name

Journal of Molecular Diagnostics

Volume

Issue

Pages

465-473

ISSN

1525-1578

Publication forum

61059

Publication forum level

Open access

Open access in the publisher’s service

Self-archived

Other information

Fields of science

Biochemistry, cell and molecular biology; Biomedicine

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

DOI

10.1016/j.jmoldx.2018.03.009

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes