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: 10.1038/s41431-020-00770-0

https://doi.org/10.1038/s41431-020-00770-0

Long-read trio sequencing of individuals with unsolved intellectual disability

Cited by: 23
Author(s): Marc Pauper, Erdi Küçük, Aaron M. Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel Nelen, Ronny Derks, Han G. Brunner, Alexander Hoischen, Lisenka E L M Vissers, Christian Gilissen
Published: almost 4 years ago

Software Mentions 3

pypi: awk
A library to provide advanced awk-like functionalities for file manipulation in Python.
Papers that mentioned: 80
pypi: mendel

Papers that mentioned: 1
pypi: Truvari
Structural variant comparison tool for VCFs
Papers that mentioned: 9