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/s12881-017-0399-2

https://doi.org/10.1186/s12881-017-0399-2

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

Cited by: 7
Author(s): Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeshi Kato
Published: over 7 years ago

Software Mentions 3

bioconductor: GenomicRanges
Representation and manipulation of genomic intervals
Papers that mentioned: 323
bioconductor: IRanges
Foundation of integer range manipulation in Bioconductor
Papers that mentioned: 62
pypi: QuantStudio
Quant Studio
Papers that mentioned: 1,164