2018
MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data
He Z, Wang L, DeWan A, Leal S. MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data. Bioinformatics 2018, 35: 529-531. PMID: 30032240, PMCID: PMC6397596, DOI: 10.1093/bioinformatics/bty542.Peer-Reviewed Original Research
2012
Whole-exome sequencing of a pedigree segregating asthma
DeWan AT, Egan KB, Hellenbrand K, Sorrentino K, Pizzoferrato N, Walsh KM, Bracken MB. Whole-exome sequencing of a pedigree segregating asthma. BMC Medical Genomics 2012, 13: 95. PMID: 23046476, PMCID: PMC3563469, DOI: 10.1186/1471-2350-13-95.Peer-Reviewed Original ResearchConceptsNon-asthmatic childrenWhole-exome sequencingAsthma candidate genesAsthmatic childrenAsthmaAsthma associationsAffected motherExome sequencingUnaffected fatherAsthma-susceptibility variantsPrediction scoreUnaffected offspringCommon risk variantsRisk variantsCandidate genesChildrenNonsynonymous variantsAffected offspring