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: 10.1136/jmedgenet-2014-102405

https://doi.org/10.1136/jmedgenet-2014-102405

Whole exome sequencing of familial hypercholesterolaemia patients negative for<i>LDLR</i>/<i>APOB</i>/<i>PCSK9</i>mutations

Cited by: 100
Author(s): Marta Futema, Vincent Plagnol, KaWah Li, Ros Whittall, H. A. W. Neil, Mary Seed, Stefano Bertolini, Sebastiano Calandra, Olivier Descamps, Colin A. Graham, Robert A. Hegele, Fredrik Karpe, Ronen Durst, Eran Leitersdorf, Nicholas Lench, Devaki Nair, Handrean Soran, Frank M. van Bockxmeer, Steve E. Humphries
Published: over 10 years ago

Software Mentions 1

cran: ExomeDepth
Calls Copy Number Variants from Targeted Sequence Data
Papers that mentioned: 112