Resolving genome fractions using polymorphism counts

摘要: Methods of reliably estimating genomic fraction (e.g., fetal fraction) from polymorphisms such as small base variations or insertions-deletions are disclosed. Sequenced data a multigenomic source is used to determine allele counts for one more the polymorphisms. For polymorphisms, zygosity assigned, and determined counts. Certain embodiments employ SNPs relevant polymorphism. The disclosed methods can be applied part an intentional, pre-designed re-sequencing study targeted against known in retrospective analysis found by coincidence overlapping sequences generated maternal plasma (or any other setting where mixture DNA several people present).