Inhumangenetics,causalinferencemethodsleveragelargeomicsdatasetsandphenotypicinformationtodeciphervariouscause-and-effectrelationshipsinhumanhealthanddisease(e.g.,smokingandlungcancer).Thefocusofsuchworkistypicallyonmodifiablevariables(e.g.,behaviororenvironmentalexposure)thatimpactdiseaseonset,progression,andoutcome.Abetterunderstandingofthesevariablescanleadtointerventionsandtherapeuticsthathaveadesirableimpactonpublichealth.Writtenandeditedbyexpertsinthefield,thiscollectionfromColdSpringHarborPerspectivesinMedicineexaminesadvancesincausalinferenceapproachesinhumangeneticsandhowtheyarebeingusedtoenhanceourunderstandingofhumandevelopmentanddisease.Thecontributorsdiscussfamily-basedstudydesignsforcausalinference,includingtwindesigns,adoptiondesigns,andinvitrofertilizationdesigns,thatseparateinheritedfactorsfromperinatalenvironmentalexposures.TheyalsoreviewvarioustypesofMendelianrandomization--apopulation-basedapproachthatisgrowinginutilityandpopularity--aswellastheirintegrationwithfamily-baseddesigns.Theuseoftheseapproachestoinvestigatecausalmechanismsinspecificscenarios(e.g.,maternalsmokingduringpregnancyandADHDinoffspring)isalsocovered.Thisvolumeisthereforeanessentialreadforgeneticists,epidemiologists,andallbiomedicalscientistsandpublichealthprofessionalsdedicatedtousinggeneticinformationtoimprovehumanhealth.
epidemiologists DEVELOPMENT DISEASE HUMAN
