Accurate deduction of fetal dna fraction with shallow-depth sequencing of maternal plasma

摘要: Embodiments of the present invention provide methods, systems, and apparatus for deducing fetal DNA fraction in maternal plasma without using paternal or genotypes. Maternal genotype information may be obtained from a maternal-only sample assumed shallow-depth sequencing biological having both molecules. Because at shallow depths, locus have only few reads fail to exhibit non-maternal allele even if is present. However, normalized parameters that characterize alleles sequenced can used an accurate estimate fraction, amount error. Methods described herein not need high-depth enrichment specific regions. As result, these methods integrated into widely non-invasive prenatal testing other diagnostics.