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.

Projects: bioconductor: RareVariantVis

https://packages.ecosyste.ms/registries/bioconductor.org/packages/RareVariantVis

A suite for analysis of rare genomic variants in whole genome sequencing data
1 version
Latest release: 10 months ago
10,795 downloads total

Papers Mentioning RareVariantVis 4

10.1093/humrep/deab099

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders
Cited by: 28
Author(s): Manon S Oud, Brendan J Houston, Ludmila Voložonoka, Francesco K. Mastrorosa, Giles Holt, Bilal Alobaidi, P F deVries, Galuh D.N. Astuti, Liliana Ramos, Robert I McLachlan, Moira K O'Bryan, Joris A. Veltman, H Chemes, Harsh Sheth
Software Mentions: 2
Published: about 3 years ago

10.3390/ijms20215418

Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics
Cited by: 5
Author(s): Agnieszka Malcher, Piotr Jędrzejczak, Tomasz Stokowy, Soroosh Monem, Karolina Nowicka-Bauer, Agnieszka Zimna, A Czyźyk, Marzena Maciejewska-Jeske, Błażej Męczekalski, Katarzyna Bednarek‐Rajewska, Aldona Woźniak, Natalia Rozwadowska, Maciej Kurpisz
Software Mentions: 2
Published: over 4 years ago

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
Software Mentions: 1
Published: about 5 years ago

10.1093/humrep/dez246

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia
Cited by: 34
Author(s): Manon S Oud, Özlem Okutman, Linda A.J. Hendricks, Petra F. de Vries, Brendan J Houston, Lisenka E L M Vissers, Moira K O’Bryan, Liliana Ramos, H Chemes, Stéphane Viville, Joris A. Veltman
Software Mentions: 1
Published: over 4 years ago