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/s13073-018-0606-6

https://doi.org/10.1186/s13073-018-0606-6

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Cited by: 102
Author(s): Alba Sanchis‐Juan, Jonathan Stephens, Courtney French, Nicholas Gleadall, Karyn Mégy, Christopher J. Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren Carss
Published: almost 6 years ago

Software Mentions 3

cran: Platypus
Single-Cell Immune Repertoire and Gene Expression Analysis
Papers that mentioned: 218
pypi: NanoSV
Structural variation detection tool for Oxford Nanopore data.
Papers that mentioned: 14
pypi: Platypus
A minimal language
Papers that mentioned: 218