<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Collins, Ryan L</style></author><author><style face="normal" font="default" size="100%">Brand, Harrison</style></author><author><style face="normal" font="default" size="100%">Karczewski, Konrad J</style></author><author><style face="normal" font="default" size="100%">Zhao, Xuefang</style></author><author><style face="normal" font="default" size="100%">Alföldi, Jessica</style></author><author><style face="normal" font="default" size="100%">Francioli, Laurent C</style></author><author><style face="normal" font="default" size="100%">Khera, Amit V</style></author><author><style face="normal" font="default" size="100%">Lowther, Chelsea</style></author><author><style face="normal" font="default" size="100%">Gauthier, Laura D</style></author><author><style face="normal" font="default" size="100%">Wang, Harold</style></author><author><style face="normal" font="default" size="100%">Watts, Nicholas A</style></author><author><style face="normal" font="default" size="100%">Solomonson, Matthew</style></author><author><style face="normal" font="default" size="100%">O'Donnell-Luria, Anne</style></author><author><style face="normal" font="default" size="100%">Baumann, Alexander</style></author><author><style face="normal" font="default" size="100%">Munshi, Ruchi</style></author><author><style face="normal" font="default" size="100%">Walker, Mark</style></author><author><style face="normal" font="default" size="100%">Whelan, Christopher W</style></author><author><style face="normal" font="default" size="100%">Huang, Yongqing</style></author><author><style face="normal" font="default" size="100%">Brookings, Ted</style></author><author><style face="normal" font="default" size="100%">Sharpe, Ted</style></author><author><style face="normal" font="default" size="100%">Stone, Matthew R</style></author><author><style face="normal" font="default" size="100%">Valkanas, Elise</style></author><author><style face="normal" font="default" size="100%">Fu, Jack</style></author><author><style face="normal" font="default" size="100%">Tiao, Grace</style></author><author><style face="normal" font="default" size="100%">Laricchia, Kristen M</style></author><author><style face="normal" font="default" size="100%">Ruano-Rubio, Valentin</style></author><author><style face="normal" font="default" size="100%">Stevens, Christine</style></author><author><style face="normal" font="default" size="100%">Gupta, Namrata</style></author><author><style face="normal" font="default" size="100%">Cusick, Caroline</style></author><author><style face="normal" font="default" size="100%">Margolin, Lauren</style></author><author><style face="normal" font="default" size="100%">Taylor, Kent D</style></author><author><style face="normal" font="default" size="100%">Lin, Henry J</style></author><author><style face="normal" font="default" size="100%">Rich, Stephen S</style></author><author><style face="normal" font="default" size="100%">Post, Wendy S</style></author><author><style face="normal" font="default" size="100%">Chen, Yii-Der Ida</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Nusbaum, Chad</style></author><author><style face="normal" font="default" size="100%">Philippakis, Anthony</style></author><author><style face="normal" font="default" size="100%">Lander, Eric</style></author><author><style face="normal" font="default" size="100%">Gabriel, Stacey</style></author><author><style face="normal" font="default" size="100%">Neale, Benjamin M</style></author><author><style face="normal" font="default" size="100%">Kathiresan, Sekar</style></author><author><style face="normal" font="default" size="100%">Daly, Mark J</style></author><author><style face="normal" font="default" size="100%">Banks, Eric</style></author><author><style face="normal" font="default" size="100%">MacArthur, Daniel G</style></author><author><style face="normal" font="default" size="100%">Talkowski, Michael E</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Genome Aggregation Database Production Team</style></author><author><style face="normal" font="default" size="100%">Genome Aggregation Database Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">A structural variation reference for medical and population genetics.</style></title><secondary-title><style face="normal" font="default" size="100%">Nature</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nature</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Continental Population Groups</style></keyword><keyword><style  face="normal" font="default" size="100%">Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Testing</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetics, Medical</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetics, Population</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotyping Techniques</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Reference Standards</style></keyword><keyword><style  face="normal" font="default" size="100%">Selection, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Whole Genome Sequencing</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 05</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">581</style></volume><pages><style face="normal" font="default" size="100%">444-451</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Structural variants (SVs) rearrange large segments of DNA and can have profound consequences in evolution and human disease. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD) have become integral in the interpretation of single-nucleotide variants (SNVs). However, there are no reference maps of SVs from high-coverage genome sequencing comparable to those for SNVs. Here we present a reference of sequence-resolved SVs constructed from 14,891 genomes across diverse global populations (54% non-European) in gnomAD. We discovered a rich and complex landscape of 433,371 SVs, from which we estimate that SVs are responsible for 25-29% of all rare protein-truncating events per genome. We found strong correlations between natural selection against damaging SNVs and rare SVs that disrupt or duplicate protein-coding sequence, which suggests that genes that are highly intolerant to loss-of-function are also sensitive to increased dosage. We also uncovered modest selection against noncoding SVs in cis-regulatory elements, although selection against protein-truncating SVs was stronger than all noncoding effects. Finally, we identified very large (over one megabase), rare SVs in 3.9% of samples, and estimate that 0.13% of individuals may carry an SV that meets the existing criteria for clinically important incidental findings. This SV resource is freely distributed via the gnomAD browser and will have broad utility in population genetics, disease-association studies, and diagnostic screening.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">7809</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32461652?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Regier, Allison A</style></author><author><style face="normal" font="default" size="100%">Farjoun, Yossi</style></author><author><style face="normal" font="default" size="100%">Larson, David E</style></author><author><style face="normal" font="default" size="100%">Krasheninina, Olga</style></author><author><style face="normal" font="default" size="100%">Kang, Hyun Min</style></author><author><style face="normal" font="default" size="100%">Howrigan, Daniel P</style></author><author><style face="normal" font="default" size="100%">Chen, Bo-Juen</style></author><author><style face="normal" font="default" size="100%">Kher, Manisha</style></author><author><style face="normal" font="default" size="100%">Banks, Eric</style></author><author><style face="normal" font="default" size="100%">Ames, Darren C</style></author><author><style face="normal" font="default" size="100%">English, Adam C</style></author><author><style face="normal" font="default" size="100%">Li, Heng</style></author><author><style face="normal" font="default" size="100%">Xing, Jinchuan</style></author><author><style face="normal" font="default" size="100%">Zhang, Yeting</style></author><author><style face="normal" font="default" size="100%">Matise, Tara</style></author><author><style face="normal" font="default" size="100%">Abecasis, Goncalo R</style></author><author><style face="normal" font="default" size="100%">Salerno, Will</style></author><author><style face="normal" font="default" size="100%">Zody, Michael C</style></author><author><style face="normal" font="default" size="100%">Neale, Benjamin M</style></author><author><style face="normal" font="default" size="100%">Hall, Ira M</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Commun</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat Commun</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Human Genetics</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Whole Genome Sequencing</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 10 02</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">9</style></volume><pages><style face="normal" font="default" size="100%">4038</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Hundreds of thousands of human whole genome sequencing (WGS) datasets will be generated over the next few years. These data are more valuable in aggregate: joint analysis of genomes from many sources increases sample size and statistical power. A central challenge for joint analysis is that different WGS data processing pipelines cause substantial differences in variant calling in combined datasets, necessitating computationally expensive reprocessing. This approach is no longer tenable given the scale of current studies and data volumes. Here, we define WGS data processing standards that allow different groups to produce functionally equivalent (FE) results, yet still innovate on data processing pipelines. We present initial FE pipelines developed at five genome centers and show that they yield similar variant calling results and produce significantly less variability than sequencing replicates. This work alleviates a key technical bottleneck for genome aggregation and helps lay the foundation for community-wide human genetics studies.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30279509?dopt=Abstract</style></custom1></record></records></xml>