Increased frequency of repeat expansion mutations across different populations

This research was made possible through access to data in the National Genomic Research Library, which is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The National Genomic Research Library holds data provided by patients and collected by the NHS as part of their care and data collected as part of their participation in research. The National Genomic Research Library is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. This work was supported by funding from Barts charity (MGU0569) and a Medical Research Council Clinician Scientist award (MR/S006753/1) to A.T. A.J.S. received support from NIH grants AG075051, NS105781, HD103782 and NS120241, and A.M.-T. received support from NHLBI Biodata Catalyst fellowship 5120339. Age at onset data used in the preparation of this publication for SCA were obtained from the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) funded by FDA grant U18FD005320 and administered by Critical Path Institute. The data were provided to RDCA-DAP by Universitaetsklinikum Bonn and Universitaetsklinikum Tuebingen [Universitaetsklinikum Bonn and Universitaetsklinikum Tuebingen of datasets used by Arianna Tucci in March 2023. Data used in the preparation of this publication for the age at onset data of myotonic dystrophy were obtained by the UK DM Patient Registry, and we acknowledge the Participants and the Steering Committee. Research reported in this paper was supported by the Office of Research Infrastructure of the NIH under award number S10OD018522. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. This work was supported in part through the computational resources and staff expertise provided by Scientific Computing at the Icahn School of Medicine at Mount Sinai. Molecular data for the Trans-Omics in Precision Medicine (TOPMed) program were supported by the National Heart, Lung and Blood Institute (NHLBI). Genome sequencing for 'NHLBI TOPMed - NHGRI CCDG: The BioMe Biobank at Mount Sinai' (phs001644.v1.p1) was performed at the McDonnell Genome Institute (3UM1HG008853-01S2). Genome sequencing for 'NHLBI TOPMed: Women's Health Initiative (WHI)' (phs001237.v2.p1) was performed at the Broad Institute Genomics Platform (contract number HHSN268201500014C). Core support including centralized genomic read mapping and genotype calling, along with variant quality metrics and filtering were provided by the TOPMed Informatics Research Center (3R01HL-117626-02S1; contract number HHSN268201800002I). Core support including phenotype harmonization, data management, sample-identity QC and general program coordination were provided by the TOPMed Data Coordinating Center (R01HL-120393; U01HL-120393; contract number HHSN268201800001I). We gratefully acknowledge the studies and participants who provided biological samples and data for TOPMed. The Women's Health Initiative (WHI) program is funded by the National Heart, Lung, and Blood Institute, NIH, US Department of Health and Human Services through contract numbers HHSN268201600018C, HHSN268201600001C, HHSN268201600002C, HHSN268201600003C and HHSN268201600004C. This manuscript was not prepared in collaboration with investigators of the WHI and does not necessarily reflect the opinions or views of the WHI investigators, or NHLBI. The Atherosclerosis Risk in Communities study has been funded in whole or in part with Federal funds from the National Heart, Lung, and Blood Institute, National Institute of Health, Department of Health and Human Services, under contract numbers HHSN268201700001I, HHSN268201700002I, HHSN268201700003I, HHSN268201700004I and HHSN268201700005I. We thank the staff and participants of the ARIC study for their important contributions. MESA and the MESA SHARe project are conducted and supported by the National Heart, Lung, and Blood Institute (NHLBI) in collaboration with MESA investigators. Support for MESA is provided by contract numbers HHSN268201500003I, N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC95164, N01-HC-95165, N01-HC-95166, N01-HC-95167, N01-HC-95168, N01-HC-95169, UL1-TR-001079, UL1-TR000040, UL1-TR-001420, UL1-TR-001881 and DK063491. The Jackson Heart Study (JHS) is supported and conducted in collaboration with Jackson State University (contract number HHSN268201800013I), Tougaloo College (contract number HHSN268201800014I), the Mississippi State Department of Health (contract number HHSN268201800015I/HHSN26800001) and the University of Mississippi Medical Center (contract numbers HHSN268201800010I, HHSN268201800011I and HHSN268201800012I) contracts from the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute for Minority Health and Health Disparities (NIMHD). We also thank the staff and participants of the JHS. This research was supported by contract numbers HHSN268201200036C, HHSN268200800007C, HHSN268201800001C, N01HC55222, N01HC85079, N01HC85080, N01HC85081, N01HC85082, N01HC85083 and N01HC85086 and grants U01HL080295 and U01HL130114 from the National Heart, Lung, and Blood Institute (NHLBI), with additional contribution from the National Institute of Neurological Disorders and Stroke (NINDS). Additional support was provided by R01AG023629 from the National Institute on Aging (NIA). A full list of principal CHS investigators and institutions can be found at https://chs-nhlbi.org/. This research used data generated by the COPDGene study, which was supported by NIH grants U01 HL089856 and U01 HL089897. The COPDGene project is also supported by the COPD Foundation through contributions made by an Industry Advisory Board composed of Pfizer, AstraZeneca, Boehringer Ingelheim, Novartis and Sunovion. The Framingham Heart Study is conducted and supported by the National Heart, Lung, and Blood Institute (NHLBI) in collaboration with Boston University (contract numbers N01-HC-25195, HHSN268201500001I and 75N92019D00031). This manuscript was not prepared in collaboration with investigators of the Framingham Heart Study and does not necessarily reflect the opinions or views of the Framingham Heart Study, Boston University or NHLBI. The Mount Sinai BioMe Biobank is supported by The Andrea and Charles Bronfman Philanthropies. This research utilized Queen Mary's Apocrita HPC facility, supported by QMUL Research-IT73. Funding was provided by Medical Research Council, Department of Health and Social Care, NHS England, National Institute for Health Research.