Comparing observed average numbers of affected sibs with those expected under geometric ascertainment bias in an extended range in both simplex and multiple sibships

Abstract

Detection bias in recessive ascertainment is generally considered to be confined in a narrow range between unbiased truncate ascertainment and single ascertainment, where methods of segregation analysis are established. While there are arguments for an extended range of analysis, a deflated detection progression below the unbiased level is still being considered as theoretical ground or ignored as sporadics. I show here a method of gauging the ascertainment levels of surveyed data in a geometric continuum. The method is valid for recessive segregation at any ascertainment level and in simplex or multiplex sibships of whatever degree of truncation. Four previously published surveys are used to show conformation with real data and the existence of detection trends spanning the range from the unsuspected very depressed bias level to the inflated level above single ascertainment.