TY - JOUR
T1 - Centers for Mendelian Genomics
T2 - A decade of facilitating gene discovery
AU - Centers for Mendelian Genomics Consortium
AU - Baxter, Samantha M.
AU - Posey, Jennifer E.
AU - Lake, Nicole J.
AU - Sobreira, Nara
AU - Chong, Jessica X.
AU - Buyske, Steven
AU - Blue, Elizabeth E.
AU - Chadwick, Lisa H.
AU - Coban-Akdemir, Zeynep H.
AU - Doheny, Kimberly F.
AU - Davis, Colleen P.
AU - Lek, Monkol
AU - Wellington, Christopher
AU - Jhangiani, Shalini N.
AU - Gerstein, Mark
AU - Gibbs, Richard A.
AU - Lifton, Richard P.
AU - MacArthur, Daniel G.
AU - Matise, Tara C.
AU - Lupski, James R.
AU - Valle, David
AU - Bamshad, Michael J.
AU - Hamosh, Ada
AU - Mane, Shrikant
AU - Nickerson, Deborah A.
AU - Adams, Marcia
AU - Aguet, François
AU - Akay, Gulsen
AU - Anderson, Peter
AU - Antonescu, Corina
AU - Arachchi, Harindra M.
AU - Atik, Mehmed M.
AU - Austin-Tse, Christina A.
AU - Babb, Larry
AU - Bacus, Tamara J.
AU - Bahrambeigi, Vahid
AU - Balasubramanian, Suganthi
AU - Bayram, Yavuz
AU - Beaudet, Arthur L.
AU - Beck, Christine R.
AU - Belmont, John W.
AU - Below, Jennifer E.
AU - Bilguvar, Kaya
AU - Boehm, Corinne D.
AU - Boerwinkle, Eric
AU - Boone, Philip M.
AU - Bowne, Sara J.
AU - Brand, Harrison
AU - Martin, Renan
AU - Witmer, Dane
N1 - Publisher Copyright:
© 2021 American College of Medical Genetics and Genomics
PY - 2022/4
Y1 - 2022/4
N2 - Purpose: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration. Methods: Over the past 10 years, the National Institutes of Health–supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution. Results: We highlight the cumulative gene discoveries facilitated by the program, biomedical research leveraged by the approach, and the larger impact on the research community. Beyond generating a list of gene-phenotype relationships and participating in widespread data sharing, the CMGs have created resources, tools, and training for the larger community to foster understanding of genes and genome variation. The CMGs have participated in a wide range of data sharing activities, including deposition of all eligible CMG data into the Analysis, Visualization, and Informatics Lab-space (AnVIL), sharing candidate genes through the Matchmaker Exchange and the CMG website, and sharing variants in Genotypes to Mendelian Phenotypes (Geno2MP) and VariantMatcher. Conclusion: The work is far from complete; strengthening communication between research and clinical realms, continued development and sharing of knowledge and tools, and improving access to richly characterized data sets are all required to diagnose the remaining molecularly undiagnosed patients.
AB - Purpose: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration. Methods: Over the past 10 years, the National Institutes of Health–supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution. Results: We highlight the cumulative gene discoveries facilitated by the program, biomedical research leveraged by the approach, and the larger impact on the research community. Beyond generating a list of gene-phenotype relationships and participating in widespread data sharing, the CMGs have created resources, tools, and training for the larger community to foster understanding of genes and genome variation. The CMGs have participated in a wide range of data sharing activities, including deposition of all eligible CMG data into the Analysis, Visualization, and Informatics Lab-space (AnVIL), sharing candidate genes through the Matchmaker Exchange and the CMG website, and sharing variants in Genotypes to Mendelian Phenotypes (Geno2MP) and VariantMatcher. Conclusion: The work is far from complete; strengthening communication between research and clinical realms, continued development and sharing of knowledge and tools, and improving access to richly characterized data sets are all required to diagnose the remaining molecularly undiagnosed patients.
KW - Centers for Mendelian Genomics (CMG)
KW - Data sharing
KW - Mendelian conditions
KW - Novel gene-disease discovery
KW - Rare disease tools
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UR - http://www.scopus.com/inward/citedby.url?scp=85124298361&partnerID=8YFLogxK
U2 - 10.1016/j.gim.2021.12.005
DO - 10.1016/j.gim.2021.12.005
M3 - Review article
C2 - 35148959
AN - SCOPUS:85124298361
SN - 1098-3600
VL - 24
SP - 784
EP - 797
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 4
ER -