Cited by 314Genomics and Rare DiseasesGenetic Associations and EpidemiologyEvolution and Genetic Dynamics

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Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Chen, Rong, Shi, Lisong, Hakenberg, Jörg, Naughton, Brian, Sklar, Pamela, Zhang, Jianguo, Zhou, Hanlin, Tian, Lifeng, Prakash, Om, Lemire, Mathieu, Sleiman, Patrick, Cheng, Wei-yi, Chen, Wanting, Shah, Hardik, Shen, Yulan, Fromer, Menachem, Omberg, Larsson, Deardorff, Matthew A, Zackai, Elaine, Bobe, Jason R, Levin, Elissa, Hudson, Thomas J, Groop, Leif, Wang, Jun, Hakonarson, Hakon, Wojcicki, Anne, Diaz, George A, Edelmann, Lisa, Schadt, Eric E, Friend, Stephen H·2016·Nature Biotechnology

DOI 10.1038/nbt.3514

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Abstract

Genetic studies of human disease have traditionally focused on the detection of disease-causing mutations in afflicted individuals. Here we describe a complementary approach that seeks to identify healthy individuals resilient to highly penetrant forms of genetic childhood disorders. A comprehensive screen of 874 genes in 589,306 genomes led to the identification of 13 adults harboring mutations for 8 severe Mendelian conditions, with no reported clinical manifestation of the indicated disease. Our findings demonstrate the promise of broadening genetic studies to systematically search for well individuals who are buffering the effects of rare, highly penetrant, deleterious mutations. They also indicate that incomplete penetrance for Mendelian diseases is likely more common than previously believed. The identification of resilient individuals may provide a first step toward uncovering protective genetic variants that could help elucidate the mechanisms of Mendelian diseases and new therapeutic strategies.

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Additional file 1 of Rare copy-number variants as modulators of common disease susceptibility
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Additional file 3 of Rare copy-number variants as modulators of common disease susceptibility
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Authors: Chen, R., Shi, L., Hakenberg, J., Naughton, B., Sklar, P., Zhang, J., Zhou, H., Tian, L., Prakash, O., Lemire, M., Sleiman, P., Cheng, W.-Y., Chen, W., Shah, H., Shen, Y., Fromer, M., Omberg, L., Deardorff, M. A., Zackai, E., Bobe, J. R., Levin, E., Hudson, T. J., Groop, L., Wang, J., Hakonarson, H., Wojcicki, A., Diaz, G. A., Edelmann, L., Schadt, E. E., & Friend, S. H.
Affiliations: Icahn School of Medicine at Mount Sinai (US)
23andMe (United States) (US)
BGI Group (China) (CN)
Children's Hospital of Philadelphia (US)
Lund University (SE)
Ontario Institute for Cancer Research (CA)
Sage Bionetworks (US)
Corresponding author: Chen, Rong
Schadt, Eric E
Friend, Stephen H
ORCID: Chen, Rong
Shi, Lisong
Hakenberg, Jörg
Sklar, Pamela
Zhang, Jianguo
Zhou, Hanlin
Tian, Lifeng
Prakash, Om
Lemire, Mathieu
Cheng, Wei-yi
Chen, Wanting
Shen, Yulan
Fromer, Menachem
Omberg, Larsson
Deardorff, Matthew A
Zackai, Elaine
Bobe, Jason R
Hudson, Thomas J
Groop, Leif
Wang, Jun
Hakonarson, Hakon
Edelmann, Lisa
Schadt, Eric E
Friend, Stephen H
Venue: Nature Biotechnology
Publisher: Springer Science and Business Media LLC
Published: 2016-04-11
Volume: 34
Issue: 5
Pages: 531-538
ISSN: 0733-222X (ISSN-L)
1087-0156
1546-1696
DOI: 10.1038/nbt.3514
OpenAlex: W2326403029
Cited by: 310
References: 59
Citations by year: 2026: 14 · 2025: 19 · 2024: 13 · 2023: 33 · 2022: 24 · 2021: 26 · 2020: 38 · 2019: 33 · 2018: 32 · 2017: 45 · 2016: 33
FWCI: 38.51
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Biotechnology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
Keywords: disease resilience, asymptomatic carriers, incomplete penetrance, protective genetic variants, pathogenic variants
MeSH terms: Child, Child, Preschool, Chromosome Mapping, DNA Mutational Analysis, Female, Genetic Testing, Humans, Infant, Infant, Newborn, Male, Sensitivity and Specificity, Reproducibility of Results, Genome, Human, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genetic Diseases, Inborn, Mendelian Randomization Analysis, Disease Resistance

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Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

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