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10.1186/s13059-017-1158-6 http://scihub22266oqcxt.onion/10.1186/s13059-017-1158-6 C5338099!5338099!28260531     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28260531&cmd=llinks): Failed to open stream: HTTP request failed! 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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome |pdf=|usr=}}{{28260531}} gab.com Text Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome JO: Genome Biol http://www.kidney.de/pget.php?&tw=1&pmid=28260531 #FOAvip Background: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. Results: We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct a genome-wide map of large SV. Using long-insert jumping libraries at 105X mean physical coverage and linked-read whole-genome sequencing from 10X Genomics, we document seven major SV classes at ~5 kb SV resolution. Our results encompass 11,735 distinct large SV sites, 38.1% of which are novel and 16.8% of which are balanced or complex. We characterize 16 recurrent subclasses of complex SV (cxSV), revealing that: (1) cxSV are larger and rarer than canonical SV; (2) each genome harbors 14 large cxSV on average; (3) 84.4% of large cxSVs involve inversion; and (4) most large cxSV (93.8%) have not been delineated in previous studies. Rare SVs are more likely to disrupt coding and regulatory non-coding loci, particularly when truncating constrained and disease-associated genes. We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. Conclusions: These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease. Electronic supplementary material: The online version of this article (doi:10.1186/s13059-017-1158-6) contains supplementary material, which is available to authorized users. Twit Text FOAVip Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome ????Genome Biol http://www.kidney.de/pget.php?&tw=1&pmid=28260531 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28260531 #FOAvip English Wikipedia <ref>{{Cite pmid|28260531}}</ref> Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome #MMPMID28260531 Collins RL; Brand H; Redin CE; Hanscom C; Antolik C; Stone MR; Glessner JT; Mason T; Pregno G; Dorrani N; Mandrile G; Giachino D; Perrin D; Walsh C; Cipicchio M; Costello M; Stortchevoi A; An JY; Currall BB; Seabra CM; Ragavendran A; Margolin L; Martinez-Agosto JA; Lucente D; Levy B; Sanders SJ; Wapner RJ; Quintero-Rivera F; Kloosterman W; Talkowski ME Genome Biol 2017[]; 18 (ä): ä PMID28260531show ga Background: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. Results: We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct a genome-wide map of large SV. Using long-insert jumping libraries at 105X mean physical coverage and linked-read whole-genome sequencing from 10X Genomics, we document seven major SV classes at ~5 kb SV resolution. Our results encompass 11,735 distinct large SV sites, 38.1% of which are novel and 16.8% of which are balanced or complex. We characterize 16 recurrent subclasses of complex SV (cxSV), revealing that: (1) cxSV are larger and rarer than canonical SV; (2) each genome harbors 14 large cxSV on average; (3) 84.4% of large cxSVs involve inversion; and (4) most large cxSV (93.8%) have not been delineated in previous studies. Rare SVs are more likely to disrupt coding and regulatory non-coding loci, particularly when truncating constrained and disease-associated genes. We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. Conclusions: These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease. Electronic supplementary material: The online version of this article (doi:10.1186/s13059-017-1158-6) contains supplementary material, which is available to authorized users. äDefining the diverse spectrum of inversions, complex structural variat(epmc).pdf DeepDyve Pubget Overpricing