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Nucleic acids research, ISSN 1362-4962, 03/2018, Volume 46, Issue 5, pp. 2159 - 2168
Abstract Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have... 
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Survey and Summary
Journal Article
Nature methods, ISSN 1548-7091, 11/2013, Volume 10, Issue 11, pp. 1083 - 1086
Massively parallel sequencing greatly facilitates the discovery of novel disease genes causing Mendelian and oligogenic disorders. However, many mutations are... 
Genetic Predisposition to Disease | Phenotype | Humans | Databases, Genetic | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Gene mutations | Analysis | Exome sequencing | Genotype & phenotype | Fusion | Genomics | Phenotypes | Genomes | Predictions | Haploinsufficiency | Index Medicus
Journal Article
by Mefford, Heather C and Sharp, Andrew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M.H.F and de Leeuw, Nicole and Reardon, William and Gimelli, Giorgio and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Giudice, Mariangela Lo and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Räber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and De Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Björn and Gribble, Susan and Schwartz, Charles E and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J.L and Sebat, Jonathan and Romano, Corrado and Veltman, Joris A and de Vries, Bert B.A and Vermeesch, Joris R and Barber, John C.K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
The New England Journal of Medicine, ISSN 0028-4793, 10/2008, Volume 359, Issue 16, pp. 1685 - 1699
...T h e n e w e ngl a nd j o u r na l o f m e dic i n e n engl j med 359;16 www.nejm.org october 16, 2008 1685 original article Recurrent Rearrangements... 
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genotype & phenotype | Pediatrics | Pathology | Molecular biology | Chromosomes | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
The American journal of psychiatry, ISSN 0002-953X, 11/2017, Volume 174, Issue 11, pp. 1054 - 1063
Journal Article
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, ISSN 0027-5107, 02/2016, Volume 784-785, pp. 39 - 45
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 10/2013, Volume 342, Issue 6158, pp. 632 - 637
Journal Article
BMC bioinformatics, ISSN 1471-2105, 03/2015, Volume 16, Issue 1, pp. 73 - 73
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 439 - 447
Journal Article