<?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%">Chen, Xiao</style></author><author><style face="normal" font="default" size="100%">Sanchis-Juan, Alba</style></author><author><style face="normal" font="default" size="100%">French, Courtney E</style></author><author><style face="normal" font="default" size="100%">Connell, Andrew J</style></author><author><style face="normal" font="default" size="100%">Delon, Isabelle</style></author><author><style face="normal" font="default" size="100%">Kingsbury, Zoya</style></author><author><style face="normal" font="default" size="100%">Chawla, Aditi</style></author><author><style face="normal" font="default" size="100%">Halpern, Aaron L</style></author><author><style face="normal" font="default" size="100%">Taft, Ryan J</style></author><author><style face="normal" font="default" size="100%">Bentley, David R</style></author><author><style face="normal" font="default" size="100%">Butchbach, Matthew E R</style></author><author><style face="normal" font="default" size="100%">Raymond, F Lucy</style></author><author><style face="normal" font="default" size="100%">Eberle, Michael A</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">NIHR BioResource</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.</style></title><secondary-title><style face="normal" font="default" size="100%">Genet Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Genet Med</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Base Sequence</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Muscular Atrophy, Spinal</style></keyword><keyword><style  face="normal" font="default" size="100%">Survival of Motor Neuron 1 Protein</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%">22</style></volume><pages><style face="normal" font="default" size="100%">945-953</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;PURPOSE: &lt;/b&gt;Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide SMA screening to quantify the SMN1 copy number (CN) is recommended by the American College of Medical Genetics and Genomics.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;We developed a method that accurately identifies the CN of SMN1 and SMN2 using genome sequencing (GS) data by analyzing read depth and eight informative reference genome differences between SMN1/2.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We characterized SMN1/2 in 12,747 genomes, identified 1568 samples with SMN1 gains or losses and 6615 samples with SMN2 gains or losses, and calculated a pan-ethnic carrier frequency of 2%, consistent with previous studies. Additionally, 99.8% of our SMN1 and 99.7% of SMN2 CN calls agreed with orthogonal methods, with a recall of 100% for SMA and 97.8% for carriers, and a precision of 100% for both SMA and carriers.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;This SMN copy-number caller can be used to identify both carrier and affected status of SMA, enabling SMA testing to be offered as a comprehensive test in neonatal care and an accurate carrier screening tool in GS sequencing projects.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">5</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32066871?dopt=Abstract</style></custom1></record></records></xml>