Thursday, June 7, 2012

BREAKTHROUGH DISCOVERY: Neonatal genome sequencing for mutation detection

Non-invasive prenatal diagnostics analysis is desired for detection of  inherited mutations and common polymorphisms.  But, proper methods were not available  for doing this.   A new method has been discovered  by researchers from University of Washington (USA),  University of Bari (Italy),  Fred Hutchinson Cancer Research Center (USA), University of Washington School of Medicine (USA),  University of Iowa Hospitals and Clinics (USA), Seattle Children’s Research Institute (USA) and Howard Hughes Medical Institute (USA) combines   genome sequencing of two parents, genome-wide maternal haplotyping,
and deep sequencing of maternal plasma DNA to noninvasively determine the genome sequence of a human fetus at 18.5 weeks of gestation. Inheritance was predicted at 2.8 × 106 parental heterozygous sites with 98.1% accuracy. Furthermore, 39 of 44 de novo point mutations in the fetal genome were detected. This is the first step towards development of  a noninvasive analysis of inherited variation and de novo mutations in the fetus. Further research will facilitate prenatal diagnosis of both recessive and dominant Mendelian disorders.

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