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Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Proc+Natl+Acad+Sci+U+S+A 2016 ; 113 (50): E8159-68 Nephropedia Template TP
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Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends #MMPMID27799561
Chan KCA; Jiang P; Sun K; Cheng YKY; Tong YK; Cheng SH; Wong AIC; Hudecova I; Leung TY; Chiu RWK; Lo YMD
Proc Natl Acad Sci U S A 2016[Dec]; 113 (50): E8159-68 PMID27799561show ga
We explored the limit of noninvasive prenatal testing by performing genome-wide sequencing of maternal plasma DNA at 195× and 270× haploid genome coverages. Combined with the use of a series of bioinformatics filters, fetal de novo mutations could be detected with a positive predictive value that was two orders of magnitude higher than previously reported. A de novo BRAF mutation was noninvasively detected in a case with cardiofaciocutaneous syndrome. The maternal inheritance of the fetus could be ascertained on a genome-wide level without the use of maternal haplotypes, hence greatly increasing the resolution of such analysis. Finally, we showed that certain genomic locations were overrepresented at the ends of plasma DNA fragments with fetal or maternal selectivity.