Ecosyste.ms: Papers

An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.

Papers: 10.1186/s13073-019-0649-3

https://doi.org/10.1186/s13073-019-0649-3

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Cited by: 41
Author(s): Peer Arts, Annet Simons, Mofareh AlZahrani, Elanur Yılmaz, Eman Al-Idrissi, Koen van Aerde, Njood Alenezi, Hamza Ali Alghamdi, Hadeel A. AlJubab, Abdulrahman Al–Hussaini, Fahad Al-Manjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker‐Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie Henriet, Esther Hoppenreijs, Sarah Hortillosa, Chantal Kerkhofs, Riikka Keski‐Filppula, Stefan H. Lelieveld, Khurram Lone, Marius MacKenzie, Arjen R. Mensenkamp, Jukka S. Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs Th. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld‐Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
Published: over 5 years ago

Software Mentions 1

bioconductor: RareVariantVis
A suite for analysis of rare genomic variants in whole genome sequencing data
Papers that mentioned: 4