Anthony M. Musolf

TL;DR: This work developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools: MutPred, FATHMM, VEST, PolyPhen, SIFT, PROVEAN, MutationAssessor, LRT, GERP, SiPhy, phyloP, and phastCons.

TL;DR: A literature search was conducted for articles on myopia between 2019 and mid-2020 to inform definitions and classifications, experimental models, genetics, interventions, clinical trials, and clinical management as discussed by the authors.

TL;DR: O Ongoing genomics studies aim to identify additional high penetrance germline susceptibility alleles for this deadly disease.

TL;DR: Three genome-wide significant linked variants on 11p for myopia in Caucasians are identified and 11p is a promising region that has been identified by other linkage studies with a number of potentially interesting candidate genes.

TL;DR: Agarwal et al. as mentioned in this paper performed whole exome sequencing on 262 individuals from 28 extended families with a family history of lung cancer and found that regions on 12q, 7p, and 4q are linked to increased cancer risk in highly aggregated lung cancer families.