AlphaGenome identifies a deep intronic variant in a family with PLA2G6-associated neurodegeneration: Closing the diagnostic gap in rare genetic diseases
Sarah J. Eger, Greizy López, Luisa Fernanda Gómez Navarro…·Kenneth S. Kosik
Author
Stanford UniversityORCID 0000-0002-5462-9037Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
17 papers
Recent·Most cited
Sarah J. Eger, Greizy López, Luisa Fernanda Gómez Navarro…·Kenneth S. Kosik
Tanner D. Jensen, Yann Le Guen, Lia Talozzi…·Michael D. Greicius
The paper uses long-read genome sequencing and multi-omics data to identify structural variants associated with aging and neurodegenerative diseases, finding that SVs are more likely to be causal than SNVs.
Alexandra N. Trelle, Jintao Sheng, Edward N. Wilson…·Anthony D. Wagner
This study examines how APOE ε4 and Alzheimer's pathology interact to affect neural correlates of episodic memory in cognitively unimpaired older adults.
Tanner D. Jensen, Bohan Ni, Chloe M. Reuter…·Alexis J. Battle
The paper integrates long-read sequencing and gene expression to prioritize functional structural variants and tandem repeats in rare disease patients, identifying potential causal variants in a neurodevelopmental disorder.
Jun Young Park, Andrés Peña‐Tauber, Lia Talozzi…·Yann Le Guen
This study identifies genetic variants associated with human longevity, finding enrichment for oncogenic genes and pathways linked to cancer and clonal hematopoiesis.
Hamilton Se‐Hwee Oh, Yann Le Guen, Nimrod Rappoport…·Tony Wyss‐Coray
The paper uses plasma proteomics from the UK Biobank to estimate organ age and links it to disease risk and longevity.
Tiffany Y. Eulalio, Min Sun, Olivier Gevaert…·Stephen B. Montgomery
The paper introduces regionalpcs, a method for summarizing DNA methylation patterns, showing improved sensitivity in detecting associations with Alzheimer's disease traits.
Prabesh Bhattarai, Tamil Iniyan Gunasekaran, Michaël E. Belloy…·Badri Narayan Vardarajan
The paper identifies rare FN1 variants that protect APOEε4 carriers from Alzheimer's disease by modulating extracellular matrix deposition and gliosis.
Edward N. Wilson, Congcong Wang, Michelle S. Swarovski…·Katrin I. Andreasson
This study shows that TREM1 deficiency prevents age-related myeloid metabolic changes and cognitive decline in Alzheimer's disease models.
Lihua Wang, Niko-Petteri Nykänen, Daniel Western…·Carlos Cruchaga
This study identifies four novel genetic loci associated with soluble TREM2 levels in CSF through GWAS and provides functional validation of their roles in Alzheimer's disease.
Henne H. Holstege, Marc Hulsman, Camille Charbonnier…·John Hardy
The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.
Zihuai He, Linxi Liu, Michaël E. Belloy…·Iuliana Ionita‐Laza
This paper introduces GhostKnockoff, a method to improve causal variant identification in GWAS by increasing statistical power and reducing proxy variants.
Yann Le Guen, Michaël E. Belloy, Sarah J. Eger…·Michael D. Greicius
Zihuai He, Linxi Liu, Chen Wang…·Iuliana Ionita‐Laza
This paper introduces a statistical method using knockoff statistics to identify causal loci in whole-genome sequencing data, showing increased discovery potential in Alzheimer's and COPD studies.
Marzia A. Scelsi, Valerio Napolioni, Michael D. Greicius…·the Alzheimer’s Disease Sequencing Project (ADSP)
The paper introduces NETPAGE, a network propagation method to analyze rare mutations in Alzheimer's disease, identifying tissue-specific hub genes and predicting disease status.
Kevin C. Bickart, Valerio Napolioni, Raiyan Rashid Khan…·Michael D. Greicius
This study identifies a genetic variant in CSMD1 associated with amygdala connectivity and prosocial behavior through a GWAS of brain networks in adolescents.
Jonas Richiardi, André Altmann, Michael D. Greicius
The paper responds to a commentary challenging its 2015 findings that gene expression similarity within functional brain networks is higher than expected by chance, and defends the original results.