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10.1093/bioinformatics/btu292 http://scihub22266oqcxt.onion/10.1093/bioinformatics/btu292 C4058944!4058944 !24931986     free     free     free Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\24931986 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Bioinformatics 2014 ; 30 (12 ): i212-8 Nephropedia Template TP {{tp|p=24931986 |t=2014. Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing |pdf=|usr=}}{{24931986 }} gab.com Text Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing JO: Bioinformatics http://www.kidney.de/pget.php?&tw=1&pmid=24931986 #FOAvip MOTIVATION: The past several years have seen the development of methodologies to identify genomic variation within a fetus through the non-invasive sequencing of maternal blood plasma. These methods are based on the observation that maternal plasma contains a fraction of DNA (typically 5-15%) originating from the fetus, and such methodologies have already been used for the detection of whole-chromosome events (aneuploidies), and to a more limited extent for smaller (typically several megabases long) copy number variants (CNVs). RESULTS: Here we present a probabilistic method for non-invasive analysis of de novo CNVs in fetal genome based on maternal plasma sequencing. Our novel method combines three types of information within a unified Hidden Markov Model: the imbalance of allelic ratios at SNP positions, the use of parental genotypes to phase nearby SNPs and depth of coverage to better differentiate between various types of CNVs and improve precision. Our simulation results, based on in silico introduction of novel CNVs into plasma samples with 13% fetal DNA concentration, demonstrate a sensitivity of 90% for CNVs >400 kb (with 13 calls in an unaffected genome), and 40% for 50-400 kb CNVs (with 108 calls in an unaffected genome). AVAILABILITY AND IMPLEMENTATION: Implementation of our model and data simulation method is available at http://github.com/compbio-UofT/fCNV. Twit Text FOAVip Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing ????Bioinformatics http://www.kidney.de/pget.php?&tw=1&pmid=24931986 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24931986 #FOAvip English Wikipedia <ref>{{Cite pmid|24931986 }}</ref> Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing #MMPMID24931986 Rampá?ek L ; Arbabi A ; Brudno M Bioinformatics 2014[Jun]; 30 (12 ): i212-8 PMID24931986 show ga MOTIVATION: The past several years have seen the development of methodologies to identify genomic variation within a fetus through the non-invasive sequencing of maternal blood plasma. These methods are based on the observation that maternal plasma contains a fraction of DNA (typically 5-15%) originating from the fetus, and such methodologies have already been used for the detection of whole-chromosome events (aneuploidies), and to a more limited extent for smaller (typically several megabases long) copy number variants (CNVs). RESULTS: Here we present a probabilistic method for non-invasive analysis of de novo CNVs in fetal genome based on maternal plasma sequencing. Our novel method combines three types of information within a unified Hidden Markov Model: the imbalance of allelic ratios at SNP positions, the use of parental genotypes to phase nearby SNPs and depth of coverage to better differentiate between various types of CNVs and improve precision. Our simulation results, based on in silico introduction of novel CNVs into plasma samples with 13% fetal DNA concentration, demonstrate a sensitivity of 90% for CNVs >400 kb (with 13 calls in an unaffected genome), and 40% for 50-400 kb CNVs (with 108 calls in an unaffected genome). AVAILABILITY AND IMPLEMENTATION: Implementation of our model and data simulation method is available at http://github.com/compbio-UofT/fCNV. |*DNA Copy Number Variations [MESH] |*Fetus [MESH] |*Genome, Human [MESH] |Algorithms [MESH] |Computer Simulation [MESH] |DNA/blood [MESH] |Female [MESH] |Genetic Testing/*methods [MESH] |Genotype [MESH] |Humans [MESH] |Male [MESH] |Models, Statistical [MESH] |Polymorphism, Single Nucleotide [MESH] |Pregnancy [MESH] |Prenatal Diagnosis/*methods [MESH]Probabilistic method for detecting copy number variation in a fetal ge(epmc).pdf DeepDyve Pubget Overpricing