Skip to content

Commit

Permalink
Update README.md
Browse files Browse the repository at this point in the history
  • Loading branch information
ivanwilliammd authored Apr 7, 2024
1 parent 1410c69 commit 330e7c8
Showing 1 changed file with 21 additions and 2 deletions.
23 changes: 21 additions & 2 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -2,7 +2,26 @@

<!-- start tagline -->

IDeRare or "Indonesia Exome Rare Disease Variant Discovery Pipeline" is simple and ready to use variant discovery pipeline to discover rare disease variants from exome sequencing data.
IDeRare or "Indonesia Exome Rare Disease Variant Discovery Pipeline" is a simple and ready to use variant discovery pipeline to discover rare disease variants from exome sequencing data.

This repository is **the first part** of IDeRare workflow for **phenotype analysis**. For complete information, kindly refer to [IDeRare Github repository](https://github.com/ivanwilliammd/IDeRare).

## Authored by
Ivan William Harsono<sup>a</sup>, Yulia Ariani<sup>b</sup>, Beben Benyamin<sup>c,d,e</sup>, Fadilah Fadilah<sup>f,g</sup>, Dwi Ari Pujianto<sup>b</sup>, Cut Nurul Hafifah<sup>h</sup>

<sup>a</sup>Doctoral Program in Biomedical Sciences, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.<br>
<sup>b</sup>Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.<br>
<sup>c</sup>Australian Centre for Precision Health, University of South Australia, Adelaide, SA, 5000, Australia. <br>
<sup>d</sup>UniSA Allied Health and Human Performance, University of South Australia, Adelaide, SA, 5000, Australia. <br>
<sup>e</sup>South Australian Health and Medical Research Institute (SAHMRI), University of South Australia, Adelaide, SA, 5000, Australia. <br>
<sup>f</sup>Department of Medical Chemistry, Faculty of Medicine, Universitas Indonesia, Jalan Salemba Raya number 4, Jakarta, 10430, Indonesia.<br>
<sup>g</sup>Bioinformatics Core Facilities - IMERI, Faculty of Medicine, Universitas Indonesia, Jalan Salemba Raya number 6, Jakarta, 10430, Indonesia .<br>
<sup>h</sup>Department of Child Health, Dr. Cipto Mangunkusumo Hospital, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia. <br>


**Note:** Currently IDeRare paper is being considered journal submission. The citation will be updated once the paper is published.


<!-- end tagline -->

<p align="center">
Expand Down Expand Up @@ -105,4 +124,4 @@ from iderare_pheno.utils import linkage_dendrogram, list2tsv

**iderare-pheno** license is derived from [IDeRare](https://github.com/ivanwilliammd/iderare)

<!-- end license -->
<!-- end license -->

0 comments on commit 330e7c8

Please sign in to comment.