The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · Mar 10, 2023Peer-reviewedGenetic & Genomic Medicine

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

Sali M.K. Farhan, Daniel P. Howrigan, Liam E. Abbott, Joseph R. Klim, Simon D. Topp, Andrea Byrnes, Claire L. Churchhouse, Hemali P. Phatnani, Bradley N. Smith, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, , Benjamin M. Neale

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.

Nature Neuroscience · Nov 25, 2019Peer-reviewedGenomics

Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): A Cloud-based Platform for Curating and Classifying Germline Variants

Michael N. Edmonson, Aman Patel, Dale J. Hedges, Zhaoming Wang, Evadnie Rampersaud, Chimene A. Kesserwan, Xin Zhou, Yanling Liu, Scott Newman, Michael Rusch, Clay McLeod, Mark R. Wilkinson, Stephen V. Rice, Thierry Soussi, J. Paul Taylor, , Jinghui Zhang

PeCanPIE is a cloud-based platform for annotating and classifying germline variants in pediatric cancer, using ACMG guidelines to rank and classify variants from VCF files.

Genome Research · Sep 1, 2019Peer-reviewedBioinformatics