An open API service providing mapping between scientific papers and software projects that are mentioned in them.

Papers: 10.1186/gm461

https://doi.org/10.1186/gm461

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Cited by: 134
Author(s): James R. Lupski, Claudia Gonzaga‐Jauregui, Yaping Yang, Matthew N. Bainbridge, Shalini N. Jhangiani, Christian Buhay, Christie Kovar, Min Wang, Alicia Hawes, Jeffrey G. Reid, Christine M. Eng, Donna M. Muzny, Richard A. Gibbs
Published: about 12 years ago

Software Mentions 3

cran: ES
Edge Selection
Papers that mentioned: 323
Very Likely Science (75)
pypi: Cassandra
Generated Thrift interface to the Cassandra database
Papers that mentioned: 52
Likely Science (40)
pypi: pipeline
Easy shell-like pipelines, with input from a file-like object
Papers that mentioned: 175
Very Likely Science (65)