Exploring <scp><i>THAP11</i></scp> Repeat Expansion beyond <scp>Chinese‐Ancestry</scp> Cohorts: An Examination of 1000 Genomes and <scp>UK</scp> Biobank Data-Reference-Cited by-同舟云学术

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Exploring THAP11 Repeat Expansion beyond Chinese‐Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data

Published:2023-12 Issue:12 Volume:38 Page:2320-2322
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Fearnley Liam G.¹²³^ORCID,Rafehi Haloom¹²³^ORCID,Bennett Mark F.¹²⁴^ORCID,Bahlo Melanie¹²^ORCID

Affiliation:

1. Population Health and Immunity Division The Walter and Eliza Hall Institute of Medical Research Parkville Victoria Australia

2. Department of Medical Biology The University of Melbourne Parkville Victoria Australia

3. Bruce Lefroy Centre for Genetic Health Research Murdoch Children's Research Institute Parkville Victoria Australia

4. Epilepsy Research Centre, Department of Medicine University of Melbourne, Austin Health Heidelberg Victoria Australia

Funder

National Health and Medical Research Council

State Government of Victoria

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference7 articles.

1. CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia

2. The sequences of 150,119 genomes in the UK Biobank

3. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

4. ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

5. Qiu Y. Deshpande V. Avdeyev P.et al. Illumina Repeat Catalogshttps://github.com/Illumina/RepeatCatalogs.

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