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    16 IBD groups in the combined dataset of NYC.

    • plos.figshare.com
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    Updated Jun 24, 2025
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    Mariko Isshiki; Anthony J. Griffen; Paul Meissner; Paulette Spencer; Michael D. Cabana; Susan D. Klugman; Mirtha Colón; Zoya Maksumova; Shakira Suglia; Carmen R. Isasi; John M. Greally; Srilakshmi M. Raj (2025). 16 IBD groups in the combined dataset of NYC. [Dataset]. http://doi.org/10.1371/journal.pgen.1011755.s004
    Explore at:
    zipAvailable download formats
    Dataset updated
    Jun 24, 2025
    Dataset provided by
    PLOS Genetics
    Authors
    Mariko Isshiki; Anthony J. Griffen; Paul Meissner; Paulette Spencer; Michael D. Cabana; Susan D. Klugman; Mirtha Colón; Zoya Maksumova; Shakira Suglia; Carmen R. Isasi; John M. Greally; Srilakshmi M. Raj
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Area covered
    New York
    Description

    The detection of founder pathogenic variants, those observed in high frequency only in a group of individuals with increased inter-relatedness, can help improve delivery of health care for that community. We identified 16 groups with shared ancestry, based on genomic segments that are shared through identity by descent (IBD), in New York City using the genomic data of 25,366 residents from the All Of Us Research Program and the Mount Sinai BioMe biobank. From these groups we defined 7 as founder populations, mostly communities currently under-represented in medical genomics research, such as Puerto Rican and Garifuna. The enrichment analysis of ClinVar pathogenic or likely pathogenic (P/LP) variants in each group identified 201 of these damaging variants across the seven founder populations. We confirmed disease-causing variants previously reported to occur at increased frequencies in Ashkenazi Jewish and Puerto Rican genetic ancestry groups, but most of the damaging variants identified have not been previously associated with any such founder populations, and most of these founder populations have not been described to have increased prevalence of the associated rare disease. Twenty-two of 47 variants meeting Tier 2 prenatal screening criteria (1/100 carrier frequency within these founder groups) have never previously been reported. We show how population structure studies can provide insights into rare diseases disproportionately affecting under-represented founder populations, delivering a health care benefit but also a potential source of stigmatization of these communities, who should be part of the decision-making about implementation into health care delivery.

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Share
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Email
Click to copy link
Link copied
Close
Cite
Mariko Isshiki; Anthony J. Griffen; Paul Meissner; Paulette Spencer; Michael D. Cabana; Susan D. Klugman; Mirtha Colón; Zoya Maksumova; Shakira Suglia; Carmen R. Isasi; John M. Greally; Srilakshmi M. Raj (2025). 16 IBD groups in the combined dataset of NYC. [Dataset]. http://doi.org/10.1371/journal.pgen.1011755.s004

16 IBD groups in the combined dataset of NYC.

Related Article
Explore at:
zipAvailable download formats
Dataset updated
Jun 24, 2025
Dataset provided by
PLOS Genetics
Authors
Mariko Isshiki; Anthony J. Griffen; Paul Meissner; Paulette Spencer; Michael D. Cabana; Susan D. Klugman; Mirtha Colón; Zoya Maksumova; Shakira Suglia; Carmen R. Isasi; John M. Greally; Srilakshmi M. Raj
License

Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
License information was derived automatically

Area covered
New York
Description

The detection of founder pathogenic variants, those observed in high frequency only in a group of individuals with increased inter-relatedness, can help improve delivery of health care for that community. We identified 16 groups with shared ancestry, based on genomic segments that are shared through identity by descent (IBD), in New York City using the genomic data of 25,366 residents from the All Of Us Research Program and the Mount Sinai BioMe biobank. From these groups we defined 7 as founder populations, mostly communities currently under-represented in medical genomics research, such as Puerto Rican and Garifuna. The enrichment analysis of ClinVar pathogenic or likely pathogenic (P/LP) variants in each group identified 201 of these damaging variants across the seven founder populations. We confirmed disease-causing variants previously reported to occur at increased frequencies in Ashkenazi Jewish and Puerto Rican genetic ancestry groups, but most of the damaging variants identified have not been previously associated with any such founder populations, and most of these founder populations have not been described to have increased prevalence of the associated rare disease. Twenty-two of 47 variants meeting Tier 2 prenatal screening criteria (1/100 carrier frequency within these founder groups) have never previously been reported. We show how population structure studies can provide insights into rare diseases disproportionately affecting under-represented founder populations, delivering a health care benefit but also a potential source of stigmatization of these communities, who should be part of the decision-making about implementation into health care delivery.

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