Science Translational Medicine · 2010 · 1.1K citations · 33 references
MedicineGeneticsMolecular GeneticsGenomicsHuman GeneticsPrenatal DiagnosisDna SequencingInvasive Prenatal TestingMutation AnalysisNoninvasive Prenatal TestingPrenatal Genetic DiagnosisPrenatal Molecular TestingGenome-wide CharacterizationMaternal Plasma Dna SequencingMutational GenomicsMutational MappingMutational ScanningNon-invasive Prenatal TestingPlasma GenotypingPrenatal Genomics
Cell-free fetal DNA is present in the plasma of pregnant women. It consists of short DNA fragments among primarily maternally derived DNA fragments. We sequenced a maternal plasma DNA sample at up to 65-fold genomic coverage. We showed that the entire fetal and maternal genomes were represented in maternal plasma at a constant relative proportion. Plasma DNA molecules showed a predictable fragmentation pattern reminiscent of nuclease-cleaved nucleosomes, with the fetal DNA showing a reduction in a 166-base pair (bp) peak relative to a 143-bp peak, when compared with maternal DNA. We constructed a genome-wide genetic map and determined the mutational status of the fetus from the maternal plasma DNA sequences and from information about the paternal genotype and maternal haplotype. Our study suggests the feasibility of using genome-wide scanning to diagnose fetal genetic disorders prenatally in a noninvasive way.
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SOAP2: an improved ultrafast tool for short read alignment
Ruiqiang Li, Chang Yu, Yingrui Li et al. · Bioinformatics · 2009 · 3.9K citations
Presence of fetal DNA in maternal plasma and serum
Yuk Ming Dennis Lo, Noemi Corbetta, P. Chamberlain et al. · The Lancet · 1997 · 3.1K citations