USING THE SIZE OF EXTRACELLULAR DNA FRAGMENTS TO DETERMINE COPY NUMBER VARIATIONS

Abstract

The invention relates to methods for determining copy number variation (CNV), known or suspected to be associated with various pathological conditions. In some embodiments, methods are provided for determining fetal copy number variation using maternal samples comprising DNA free of maternal and fetal cells. In some embodiments, methods are provided for determining CNV known or suspected to be associated with various medical conditions. Some embodiments described herein offer methods for improving the sensitivity and / or specificity of sequence data analysis by deriving a fragment size parameter. In some implementations, information from fragments of different sizes is used to assess copy number variation.In some implementations, one or more t-statistics obtained from coverage information of the sequence of interest are used to assess variations in copy number. In some implementations, one or more fetal fraction estimates are combined with one or more t-statistics to determine variations in copy number.