Article

DEFINING CANDIDATE PARKINSON’S DISEASE GENES THROUGH THE ANALYSIS OF GENOME-WIDE HOMOZYGOSITY

2020-11-25

Abstract excerpt

<h4>ABSTRACT</h4> Early-onset Parkinson’s disease (EOPD) can be caused by biallelic mutations in PRKN, DJ1 and PINK1 . However, while the identification of novel genes is becoming increasingly challenging, new insights into EOPD genetics have important relevance for understanding the pathways driving disease pathogenesis. Here, using extended runs of homozygosity (ROH) >8Mb as a marker for possible autosomal reces...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e8f9c216-34c2-543e-bd93-ead5f1810fcb
DOI: 10.1101/2020.11.23.20235671

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

DEFINING CANDIDATE PARKINSON’S DISEASE GENES THROUGH THE ANALYSIS OF GENOME-WIDE HOMOZYGOSITYDOI 10.1101/2020.11.23.20235671Read

Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson’s disease etiology across diverse ancestral populationsSemantic proximity Read

Estimated genetics prevalence of early-onset Parkinson’s disease caused by<i>PRKN</i>mutationsSemantic proximity Read

Parkinson’s Families Project: a UK-wide study of early onset and familial Parkinson’s diseaseSemantic proximity Read

Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s diseaseSemantic proximity Read

Analysis of heterozygous <i>PRKN</i> variants and copy number variations in Parkinson’s diseaseSemantic proximity Read

Systematic Functional Analysis of PINK1 and PRKN Coding VariantsSemantic proximity Read

Assessment of private variants in <i>PRKN, PARK7</i> and <i>PINK1</i> in Parkinson’s diseaseSemantic proximity Read

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.Semantic proximity Read

Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.Semantic proximity Read

Comprehensive assessment of <i>PINK1</i> variants in Parkinson’s diseaseSemantic proximity Read

Genetic Analysis of Patients With Early-Onset Parkinson’s Disease in Eastern ChinaSemantic proximity Read

Whole-exome analysis in Parkinson’s disease reveals a high burden of ultra rare variants in early onset casesSemantic proximity Read