A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Spillmann, R. C., Tan, Q. K.-G., Reuter, C., Schoch, K., Kohler, J., Bonner, D., Zastrow, D., Alkelai, A., Baugh, E., Cope, H., Marwaha, S., Wheeler, M. T., Bernstein, J. A., Shashi, V., Acosta, M. T., Adam, M., Adams, D. R., Alvey, J., Amendola, L., … Zuchner, S. (2023). A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genetics in Medicine, 25(4), 100353. https://doi.org/10.1016/j.gim.2022.12.001
Authors:
Mario Saporta
Ta C. Chang
Chloe M. Reuter
Kelly Schoch
Jennefer N. Kohler
Devon Bonner
Diane B. Zastrow
Anna Alkelai
Evan Baugh
Heidi Cope
Shruti Marwaha
Matthew T. Wheeler
Jonathan A. Bernstein
Vandana Shashi
Maria T. Acosta
Margaret P Adam
David R. Adams
Justin Alvey
Laura M. Amendola
Ashley Andrews
Euan A. Ashley
Mahshid S. Azamian
Carlos A. Bacino
Güney Bademci
Ashok Balasubramanyam
Dustin Baldridge
Jim Bale
Michael J. Bamshad
Deborah Barbouth
Pınar Bayrak‐Toydemir
Anita Beck
Alan H. Beggs
Edward M. Behrens
Gill Bejerano
Hugo J. Bellen
Jimmy Bennet
Beverly Berg-Rood
Jonathan A. Bernstein
Gerard T. Berry
Anna Bican
Stephanie Bivona
Elizabeth Blue
John Bohnsack
Devon Bonner
Lorenzo D. Botto
Brenna Boyd
Lauren C. Briere
Elly Brokamp
Gabrielle Brown
Elizabeth A. Burke
Lindsay C. Burrage
Manish J. Butte
Peter H. Byers
William E. Byrd
John C. Carey
Olveen Carrasquillo
Thomas Cassini
Ta C. Chang
Sirisak Chanprasert
Hsiao‐Tuan Chao
Gary Clark
Terra R. Coakley
Laurel A. Cobban
Joy D. Cogan
Matthew Coggins
F. Sessions Cole
Heather A. Colley
Cynthia M. Cooper
William J. Craigen
Andrew B. Crouse
Michael L. Cunningham
Precilla D’Souza
Hongzheng Dai
Surendra Dasari
Joie Davis
Jyoti G. Dayal
Matthew A. Deardorff
Esteban C. Dell’Angelica
Katrina M. Dipple
Daniel Doherty
Naghmeh Dorrani
Argenia L. Doss
Emilie D. Douine
Laura Duncan
Dawn Earl
David J. Eckstein
Lisa Emrick
Christine M. Eng
Cecilia Esteves
Marni J. Falk
Liliana Fernández
Elizabeth L. Fieg
Paul G. Fisher
Brent L. Fogel
Irman Forghani
William A. Gahl
Ian Glass
Bernadette R. Gochuico
Rena A. Godfrey
Katie Golden‐Grant
Affiliated Authors:
Anna Alkelai
Evan Baugh
Anna Bican
Columbia Affiliation:
Subjects:
Undiagnosed Diseases (MeSH)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Genomic Landscape of Cancer and Mutational Signatures (OpenAlex Topic)
Author Keywords:
dual analysis
genomic sequencing
rare diseases
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Publication Type:
Article
Unique ID:
10.1016/j.gim.2022.12.001
PMID:
36481303
DOI:
10.1016/j.gim.2022.12.001
Journal:
Genetics in Medicine
Publication Date:
Data Source:
OpenAlex
Source Link:
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