A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0495-0
Abstract: PurposeVariants in the ABCA4 gene are causal for a variety of retinal dystrophy phenotypes, including Stargardt disease (STGD1). However, 15% of patients who present with symptoms compatible with STGD1/ABCA4 disease do not have identifiable causal… read more here.
Keywords: control collapsing; analysis; dystrophy; disease ... See more keywords
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations
Sign Up to like & getrecommendations! Published in 2017 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1007104
Abstract: Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders. Here, we evaluate how well a case-control collapsing analysis recovers genes causing dominant… read more here.
Keywords: control collapsing; analysis; case control; trio ... See more keywords