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Nature (London), ISSN 1476-4687, 2011, Volume 470, Issue 7332, pp. 59 - 65
.... We constructed a map of unbalanced SVs (that is, copy number variants) based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations... 
SHORT-READ | MULTIDISCIPLINARY SCIENCES | SNPS | SEGMENTAL DUPLICATIONS | COMMON | POLYMORPHISM | REARRANGEMENTS | STRUCTURAL VARIATION | DELETIONS | INSERTIONS | Genetics, Population | Genetic Predisposition to Disease - genetics | Reproducibility of Results | Genomics | Humans | Gene Duplication - genetics | Genotype | DNA Copy Number Variations - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Mutagenesis, Insertional - genetics | Sequence Deletion - genetics | Genotype & phenotype | Algorithms | Methods
Journal Article
Nature genetics, ISSN 1546-1718, 2017, Volume 49, Issue 12, pp. 1779 - 1784
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2015, Volume 349, Issue 6253, pp. aab3761 - aab3761
Journal Article
by Pinto, Dalila and Pagnamenta, Alistair T and Klei, Lambertus and Anney, Richard and Merico, Daniele and Regan, Regina and Conroy, Judith and Magalhaes, Tiago R and Correia, Catarina and Abrahams, Brett S and Almeida, Joana and Bacchelli, Elena and Bader, Gary D and Bailey, Anthony J and Baird, Gillian and Battaglia, Agatino and Berney, Tom and Bolshakova, Nadia and Bölte, Sven and Bolton, Patrick F and Bourgeron, Thomas and Brennan, Sean and Brian, Jessica and Bryson, Susan E and Carson, Andrew R and Casallo, Guillermo and Casey, Jillian and Chung, Brian H.Y and Cochrane, Lynne and Corsello, Christina and Crawford, Emily L and Crossett, Andrew and Cytrynbaum, Cheryl and Dawson, Geraldine and de Jonge, Maretha and Delorme, Richard and Drmic, Irene and Duketis, Eftichia and Duque, Frederico and Estes, Annette and Farrar, Penny and Fernandez, Bridget A and Folstein, Susan E and Fombonne, Eric and Freitag, Christine M and Gilbert, John and Gillberg, Christopher and Glessner, Joseph T and Goldberg, Jeremy and Green, Andrew and Green, Jonathan and Guter, Stephen J and Hakonarson, Hakon and Heron, Elizabeth A and Hill, Matthew and Holt, Richard and Howe, Jennifer L and Hughes, Gillian and Hus, Vanessa and Igliozzi, Roberta and Kim, Cecilia and Klauck, Sabine M and Kolevzon, Alexander and Korvatska, Olena and Kustanovich, Vlad and Lajonchere, Clara M and Lamb, Janine A and Laskawiec, Magdalena and Leboyer, Marion and Le Couteur, Ann and Leventhal, Bennett L and Lionel, Anath C and Liu, Xiao-Qing and Lord, Catherine and Lotspeich, Linda and Lund, Sabata C and Maestrini, Elena and Mahoney, William and Mantoulan, Carine and Marshall, Christian R and McConachie, Helen and McDougle, Christopher J and McGrath, Jane and McMahon, William M and Merikangas, Alison and Migita, Ohsuke and Minshew, Nancy J and Mirza, Ghazala K and Munson, Jeff and Nelson, Stanley F and Noakes, Carolyn and Noor, Abdul and Nygren, Gudrun and Oliveira, Guiomar and Papanikolaou, Katerina and Parr, Jeremy R and Parrini, Barbara and Paton, Tara and Pickles, Andrew and Pilorge, Marion and ... and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Nature (London), ISSN 1476-4687, 2010, Volume 466, Issue 7304, pp. 368 - 372
Journal Article