A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley Data
The data described in this publication supported the development and evaluation of pan-ancestry reproductive carrier screening panels for autosomal recessive (AR) and X-linked (XL) conditions.Raw data included combined sets of DNA variants in 1,350 AR/XL genes obtained from the ClinVar and gnomAD da...
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| Language: | English |
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Elsevier
2025-08-01
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| Series: | Data in Brief |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352340925005621 |
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| author | Mia J. Gruzin Matthew Hobbs Sarah Poll Swaroop Aradhya Leslie Burnett |
| author_facet | Mia J. Gruzin Matthew Hobbs Sarah Poll Swaroop Aradhya Leslie Burnett |
| author_sort | Mia J. Gruzin |
| collection | DOAJ |
| description | The data described in this publication supported the development and evaluation of pan-ancestry reproductive carrier screening panels for autosomal recessive (AR) and X-linked (XL) conditions.Raw data included combined sets of DNA variants in 1,350 AR/XL genes obtained from the ClinVar and gnomAD databases. The dataset enabled calculations of positive yield for individuals and couples across both ancestry-specific and pan-ancestry, optimised ''Goldilocks''-ranked gene panels, addressing population-specific variations in the frequencies of heterozygous individuals and carrier couples.The positive yield analysis offered a performance metric for carrier screening panels, facilitating the modeling of screening performance for panels of varying sizes and composition and providing resources for optimizing panel content to ensure equity across underrepresented genetic ancestriesThe dataset can support ongoing research into the equitable application of carrier screening and offers significant reuse potential for refining population genetic screening practices, validating computational models, and developing frameworks to update carrier screening panels in alignment with evolving genomic data, including in underrepresented and minority populations. |
| format | Article |
| id | doaj-art-7db998febb944ea5bac309b1bb7dc9c2 |
| institution | Kabale University |
| issn | 2352-3409 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Data in Brief |
| spelling | doaj-art-7db998febb944ea5bac309b1bb7dc9c22025-08-20T03:57:36ZengElsevierData in Brief2352-34092025-08-016111183510.1016/j.dib.2025.111835A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley DataMia J. Gruzin0Matthew Hobbs1Sarah Poll2Swaroop Aradhya3Leslie Burnett4Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia; School of Clinical Medicine, UNSW Medicine and Health, St Vincent’s Clinical Healthcare Campus, Darlinghurst, NSW 2010, AustraliaGarvan Institute of Medical Research, Darlinghurst, NSW 2010, AustraliaLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA 94304, USALabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA 94304, USA; Stanford University School of Medicine, Department of Pathology, Stanford, CA 94304, USAGarvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia; School of Clinical Medicine, UNSW Medicine and Health, St Vincent’s Clinical Healthcare Campus, Darlinghurst, NSW 2010, Australia; Northern Clinical School, Faculty of Medicine and Health, University of Sydney, St Leonards, NSW 2065, Australia; Virtus Genetics, Virtus Health Specialist Diagnostics, Revesby NSW 2212, Australia; Corresponding author.The data described in this publication supported the development and evaluation of pan-ancestry reproductive carrier screening panels for autosomal recessive (AR) and X-linked (XL) conditions.Raw data included combined sets of DNA variants in 1,350 AR/XL genes obtained from the ClinVar and gnomAD databases. The dataset enabled calculations of positive yield for individuals and couples across both ancestry-specific and pan-ancestry, optimised ''Goldilocks''-ranked gene panels, addressing population-specific variations in the frequencies of heterozygous individuals and carrier couples.The positive yield analysis offered a performance metric for carrier screening panels, facilitating the modeling of screening performance for panels of varying sizes and composition and providing resources for optimizing panel content to ensure equity across underrepresented genetic ancestriesThe dataset can support ongoing research into the equitable application of carrier screening and offers significant reuse potential for refining population genetic screening practices, validating computational models, and developing frameworks to update carrier screening panels in alignment with evolving genomic data, including in underrepresented and minority populations.http://www.sciencedirect.com/science/article/pii/S2352340925005621Reproductive geneticsCarrier screeningPan-ancestryEquitable |
| spellingShingle | Mia J. Gruzin Matthew Hobbs Sarah Poll Swaroop Aradhya Leslie Burnett A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley Data Data in Brief Reproductive genetics Carrier screening Pan-ancestry Equitable |
| title | A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley Data |
| title_full | A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley Data |
| title_fullStr | A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley Data |
| title_full_unstemmed | A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley Data |
| title_short | A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screeningMendeley Data |
| title_sort | dataset of estimated heterozygous individual and carrier couple frequencies for pan ancestry carrier screeningmendeley data |
| topic | Reproductive genetics Carrier screening Pan-ancestry Equitable |
| url | http://www.sciencedirect.com/science/article/pii/S2352340925005621 |
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