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: 10.1530/EJE-19-0771

https://doi.org/10.1530/EJE-19-0771

High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature

Cited by: 20
Author(s): Lana Stavber, Tinka Hovnik, Primož Kotnik, Luca Lovrečić, Jernej Kovač, Tine Tesovnik, Sara Bertok, Klemen Dovč, Maruša Debeljak, Tadej Battelino, Magdalena Avbelj Stefanija
Published: over 4 years ago

Software Mentions 2

pypi: CNVkit
Copy number variation toolkit for high-throughput sequencing.
Papers that mentioned: 161
pypi: multiqc
Create aggregate bioinformatics analysis reports across many samples and tools
Papers that mentioned: 37