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Showing 1–4 of 4 results

Advanced filters: Author: Elaine Roby Clear advanced filters

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

Patrick M. Nolan
Jo Peters
Jackie Hunter
Research01 Aug 2000
Nature Genetics

Volume: 25, P: 440-443
Ubiqutination via K27 and K29 chains signals aggregation and neuronal protection of LRRK2 by WSB1

Mutations in LRRK2 are linked to Parkinson’s Disease. Here, the authors identify WSB1 as a LRRK2 interacting protein and find that it promotes LRRK2 aggregation in primary neurons and drosophila models via ubiquitin K27 and K29 linkages.

Frederick C. Nucifora Jr
Leslie G. Nucifora
Christopher A. Ross
ResearchOpen Access07 Jun 2016
Nature Communications

Volume: 7, P: 1-11
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.

Pierrick Wainschtein
Deepti Jain
Peter M. Visscher
Research07 Mar 2022
Nature Genetics

Volume: 54, P: 263-273
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

STAARpipeline is a comprehensive framework for flexible and scalable rare-variant association analysis using whole-genome sequencing data and annotation information.

Zilin Li
Xihao Li
Xihong Lin
Research27 Oct 2022
Nature Methods

Volume: 19, P: 1599-1611