Ali Torkamani

Identification of ALK as a major familial neuroblastoma predisposition gene

Yaël P. Mossé, Marci Laudenslager, Luca Longo et al. · Nature · 2008 · 1.4K citations · Full text

Genetic Disorder, Genetics, Pathology +3

Minimum information about clinical artificial intelligence modeling: the MI-CLAIM checklist

Beau Norgeot, Giorgio Quer, Brett K. Beaulieu‐Jones et al. · Nature Medicine · 2020 · 524 citations · Full text

Artificial Intelligence, Data Science, Medical Expert System +11

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Pathway analysis of seven common diseases assessed by genome-wide association

Ali Torkamani, Eric J. Topol, Nicholas J. Schork · Genomics · 2008 · 344 citations · Full text

Genome-wide Association Study, Disease Etiology, Omics Integration +10

All SNPs Are Not Created Equal: Genome-Wide Association Studies Reveal a Consistent Pattern of Enrichment among Functionally Annotated SNPs

Andrew J. Schork, Wesley K. Thompson, Phillip Pham et al. · PLoS Genetics · 2013 · 300 citations · Full text

Intergenic Snps, Genetics, Genomics +19