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/s13073-019-0675-1

https://doi.org/10.1186/s13073-019-0675-1

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Cited by: 81
Author(s): Anna Wedell, Jesper Eisfeldt, Maria Pettersson, Claudia M.B. Carvalho, Malin Kvarnung, Giedré Grigelioniené, Britt‐Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson‐Soller, Kristina Lagerstedt‐Robinson, Agne Liedén, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Valtteri Wirta, Johanna Lundin, Daniel Nilsson
Published: about 5 years ago

Software Mentions 2

bioconductor: CMA
Synthesis of microarray-based classification
Papers that mentioned: 337
pypi: vcf2cytosure
Convert VCF with structural variations to CytoSure format
Papers that mentioned: 2