scholarly journals The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

2015 ◽  
Vol 36 (10) ◽  
pp. 915-921 ◽  
Author(s):  
Anthony A. Philippakis ◽  
Danielle R. Azzariti ◽  
Sergi Beltran ◽  
Anthony J. Brookes ◽  
Catherine A. Brownstein ◽  
...  
Keyword(s):  
Rare Disease ◽  
Disease Gene ◽  
Gene Discovery ◽  
Disease Gene Discovery

scholarly journals FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

2014 ◽  
Vol 94 (6) ◽  
pp. 809-817 ◽  
Author(s):  
Chandree L. Beaulieu ◽  
Jacek Majewski ◽  
Jeremy Schwartzentruber ◽  
Mark E. Samuels ◽  
Bridget A. Fernandez ◽  
...  
Keyword(s):  
Rare Disease ◽  
Disease Gene ◽  
Gene Discovery ◽  
Disease Gene Discovery ◽  
Discovery Project

scholarly journals Mitigating False-Positive Associations in Rare Disease Gene Discovery

2015 ◽  
Vol 36 (10) ◽  
pp. 998-1003 ◽  
Author(s):  
Sebastian Akle ◽  
Sung Chun ◽  
Daniel M. Jordan ◽  
Christopher A. Cassa
Keyword(s):  
Rare Disease ◽  
False Positive ◽  
Disease Gene ◽  
Gene Discovery ◽  
Disease Gene Discovery

Untapped opportunities for rare disease gene discovery in India

2020 ◽  
Vol 182 (12) ◽  
pp. 3056-3059
Author(s):  
Katta Mohan Girisha ◽  
Shruti Pande ◽  
Ashwin Dalal ◽  
Shubha R. Phadke
Keyword(s):  
Rare Disease ◽  
Disease Gene ◽  
Gene Discovery ◽  
Disease Gene Discovery

scholarly journals Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada

2021 ◽  
Author(s):  
Matthew Osmond ◽  
Taila Hartley ◽  
David A. Dyment ◽  
Kristin D. Kernohan ◽  
Michael Brudno ◽  
...  
Keyword(s):  
Rare Disease ◽  
Disease Gene ◽  
Gene Discovery ◽  
Disease Gene Discovery

scholarly journals First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

2020 ◽  
Vol 28 (8) ◽  
pp. 1034-1043 ◽  
Author(s):  
Holger Hengel ◽  
Rebecca Buchert ◽  
Marc Sturm ◽  
Tobias B. Haack ◽  
Yvonne Schelling ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Neurological Disorders ◽  
Disease Gene ◽  
Gene Discovery ◽  
First Line ◽  
Disease Gene Discovery ◽  
Israeli Arabs

scholarly journals Disease Modeling and Disease Gene Discovery in Cardiomyopathies: A Molecular Study of Induced Pluripotent Stem Cell Generated Cardiomyocytes

2021 ◽  
Vol 22 (7) ◽  
pp. 3311
Author(s):  
Satish Kumar ◽  
Joanne E. Curran ◽  
Kashish Kumar ◽  
Erica DeLeon ◽  
Ana C. Leandro ◽  
...  
Keyword(s):  
Stem Cell ◽  
Pluripotent Stem Cell ◽  
Disease Gene ◽  
Disease Modeling ◽  
Gene Discovery ◽  
Induced Pluripotent Stem Cell ◽  
P Value ◽  
Disease Gene Discovery ◽  
Induced Pluripotent

The in vitro modeling of cardiac development and cardiomyopathies in human induced pluripotent stem cell (iPSC)-derived cardiomyocytes (CMs) provides opportunities to aid the discovery of genetic, molecular, and developmental changes that are causal to, or influence, cardiomyopathies and related diseases. To better understand the functional and disease modeling potential of iPSC-differentiated CMs and to provide a proof of principle for large, epidemiological-scale disease gene discovery approaches into cardiomyopathies, well-characterized CMs, generated from validated iPSCs of 12 individuals who belong to four sibships, and one of whom reported a major adverse cardiac event (MACE), were analyzed by genome-wide mRNA sequencing. The generated CMs expressed CM-specific genes and were highly concordant in their total expressed transcriptome across the 12 samples (correlation coefficient at 95% CI =0.92 ± 0.02). The functional annotation and enrichment analysis of the 2116 genes that were significantly upregulated in CMs suggest that generated CMs have a transcriptomic and functional profile of immature atrial-like CMs; however, the CMs-upregulated transcriptome also showed high overlap and significant enrichment in primary cardiomyocyte (p-value = 4.36 × 10−9), primary heart tissue (p-value = 1.37 × 10−41) and cardiomyopathy (p-value = 1.13 × 10−21) associated gene sets. Modeling the effect of MACE in the generated CMs-upregulated transcriptome identified gene expression phenotypes consistent with the predisposition of the MACE-affected sibship to arrhythmia, prothrombotic, and atherosclerosis risk.

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