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

  title={The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies},
  author={Claire E. Redin and Harrison Brand and Ryan L. Collins and Tammy Kammin and Elyse B Mitchell and Jennelle C. Hodge and Carrie Hanscom and Vamsee K Pillalamarri and Catarina M. Seabra and Marie Abbott and Omar Arif Abdul-Rahman and Erika N. Aberg and Rhett Adley and Sof{\'i}a Lizeth Alcaraz-Estrada and Fowzan S Alkuraya and Yu An and Mary-Anne Anderson and Caroline Antolik and Kwame Anyane-Yeboa and Joan F. Atkin and Tina Bartell and J A Bernstein and Elizabeth Beyer and Ian Blumenthal and Ernie M. H. F. Bongers and Eva H. Brilstra and Chester W Brown and Hennie T. Br{\"u}ggenwirth and Bert Callewaert and Colby Chiang and Ken Corning and Helen E Cox and Edwin Cuppen and Benjamin B. Currall and Tom Cushing and Dezső D{\'a}vid and Matthew A Deardorff and Annelies Dheedene and Marc d'Hooghe and Bert B A de Vries and Dawn L Earl and Heather L. Ferguson and Heather Fisher and David R. FitzPatrick and Pamela Gerrol and Daniela Francesca Giachino and Joseph T. Glessner and Troy J Gliem and Margo Grady and Brett H Graham and Cristin Griffis and Karen W. Gripp and Andrea Gropman and Andrea Kwan Hanson-Kahn and David J. Harris and Mark A Hayden and Rosamund Hill and Ron Hochstenbach and Jodi D. Hoffman and Robert J Hopkin and Monika Weisz Hubshman and A Micheil Innes and Mira Bjelotomich Irons and Melita D. Irving and Jessie C. Jacobsen and Sandra Janssens and Tamison Jewett and J Patrick Johnson and Marjolijn C. J. Jongmans and Stephen G. Kahler and David A. Koolen and Jer{\^o}me P Korzelius and Peter Michael Kroisel and Yves Lacassie and William F. Lawless and Emmanuelle Lemyre and Kathleen A Leppig and Alex V Levin and Haibo Li and Hong Li and Eric C Liao and Cynthia Lim and Edward J Lose and Diane E Lucente and Michael J Macera and Poornima Manavalan and Giorgia Mandrile and Carlo L Marcelis and Lauren Margolin and Tamara Mason and Diane Masser-Frye and Michael W McClellan and Cinthya J Zepeda Mendoza and Bj{\"o}rn Menten and Sjors H A Middelkamp and Liya R Mikami and Emily Moe and Shehla Mohammed and Tarja K Mononen and Megan E Mortenson and Graciela E Moya and Aggie W. M. Nieuwint and Zehra Ordulu and Sandhya Parkash and Susan P. Pauker and Shahrin Pereira and Danielle L Perrin and Katy Phelan and Raul E Pi{\~n}a Aguilar and Pino J. Poddighe and Giulia Pregno and S Raskin and Linda M. Reis and William James Rhead and Debra Rita and Ivo J Renkens and Filip Roelens and Jayla Ruliera and Patrick Rump and Samantha L P Schilit and Ranad Shaheen and Rebecca L. Sparkes and Erica Spiegel and Blair Stevens and Matthew R. Stone and Julia Tagoe and Joseph V. Thakuria and Bregje W van Bon and Jiddeke M. van de Kamp and Ineke van der Burgt and Ton van Essen and Conny M A van Ravenswaaij-Arts and Markus J. van Roosmalen and Sarah Vergult and Catharina M. L. Volker-Touw and Dorothy P Warburton and Matthew J Waterman and Susan E. Wiley and Anna Wilson and Maria de la Concepcion A Yerena-de Vega and Roberto Zori and Brynn Levy and Han G. Brunner and Nicole de Leeuw and Wigard P. Kloosterman and Erik C. Thorland and Cynthia C Morton and James F. Gusella and Michael E Talkowski},
  journal={Nature Genetics},
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 77 times. VIEW TWEETS


Publications citing this paper.
Showing 1-10 of 23 extracted citations


Publications referenced by this paper.
Showing 1-10 of 86 references

Similar Papers

Loading similar papers…