The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

• Published in: Nature genetics Vol. 49; no. 1; pp. 36 - 45
• Main Authors: Brand, Harrison, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Alkuraya, Fowzan S, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Bernstein, Jonathan A, Blumenthal, Ian, Bongers, Ernie M H F, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, Earl, Dawn L, Ferguson, Heather L, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Gliem, Troy, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hill, Rosamund, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Koolen, David A, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Hong, Liao, Eric C, Lose, Edward J, Lucente, Diane, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Masser-Frye, Diane, McClellan, Michael W, Menten, Björn, Middelkamp, Sjors, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Ruliera, Jayla, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Tagoe, Julia, Thakuria, Joseph V, van de Kamp, Jiddeke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Kloosterman, Wigard P, Morton, Cynthia C, Talkowski, Michael E
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.01.2017; Nature Publishing Group
• Subjects: 631/208/1405; 631/208/212; 631/208/2489; 631/208/366; Agriculture; Analysis; Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Cancer Research; Chromosome Aberrations; Congenital Abnormalities - genetics; Congenital defects; Congenital diseases; Cytogenetics; DNA sequencing; Female; Gene Function; Gene Rearrangement; Genetic counseling; Genetic Markers - genetics; Genetic Predisposition to Disease; Genome-Wide Association Study; Genomes; Genomics; Grants; Human Genetics; Humans; Intellectual disabilities; Karyotypes; Localization; Male; Medical research; Mutation; Studies; Topology

Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical outcomes for balanced rearrangements and provides insight into pathogenic mechanisms such a...