Results 1 to 10 of about 3,753,733 (329)

Learning Summary Statistics for Bayesian Inference with Autoencoders [PDF]

SciPost Physics Core, 2022
For stochastic models with intractable likelihood functions, approximate Bayesian computation offers a way of approximating the true posterior through repeated comparisons of observations with simulated model outputs in terms of a small set of summary
Carlo Albert, Simone Ulzega, Firat Ozdemir, Fernando Perez-Cruz, Antonietta Mira
doaj   +2 more sources

The variant call format provides efficient and robust storage of GWAS summary statistics

Genome Biology, 2021
GWAS summary statistics are fundamental for a variety of research applications yet no common storage format has been widely adopted. Existing tabular formats ambiguously or incompletely store information about genetic variants and associations, lack ...
Matthew S. Lyon, Shea J. Andrews, Ben Elsworth, Tom R. Gaunt, Gibran Hemani, Edoardo Marcora   +5 more
doaj   +2 more sources

Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores

HGG Advances, 2022
Summary: Publicly available genome-wide association studies (GWAS) summary statistics exhibit uneven quality, which can impact the validity of follow-up analyses.
Florian Privé, Julyan Arbel, Hugues Aschard, Bjarni J. Vilhjálmsson   +3 more
doaj   +2 more sources

Sharing GWAS summary statistics results in more citations

Communications Biology, 2023
A review of citation rates from genomic studies in the GWAS Catalog suggests that sharing summary statistics results, on average, in ~81.8% more citations, highlighting a benefit of publicly sharing GWAS summary statistics.
Guillermo Reales, Chris Wallace
doaj   +2 more sources

PGS-Depot: a comprehensive resource for polygenic scores constructed by summary statistics based methods. [PDF]

Nucleic Acids Res, 2023
Polygenic score (PGS) is an important tool for the genetic prediction of complex traits. However, there are currently no resources providing comprehensive PGSs computed from published summary statistics, and it is difficult to implement and run different
Cao C, Zhang S, Wang J, Tian M, Ji X, Huang D, Yang S, Gu N.   +7 more
europepmc   +2 more sources

Workshop proceedings: GWAS summary statistics standards and sharing

Cell Genomics, 2021
Summary: Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in resolving
Jacqueline A.L. MacArthur, Annalisa Buniello, Laura W. Harris, James Hayhurst, Aoife McMahon, Elliot Sollis, Maria Cerezo, Peggy Hall, Elizabeth Lewis, Patricia L. Whetzel, Orli G. Bahcall, Inês Barroso, Robert J. Carroll, Michael Inouye, Teri A. Manolio, Stephen S. Rich, Lucia A. Hindorff, Ken Wiley, Helen Parkinson   +18 more
doaj   +2 more sources

PRED-LD: efficient imputation of GWAS summary statistics [PDF]

BMC Bioinformatics
Background Genome-wide association studies have identified connections between genetic variations and diseases, but they only examine a small portion of single nucleotide polymorphisms.
Georgios A. Manios, Aikaterini Michailidi, Panagiota I. Kontou, Pantelis G. Bagos   +3 more
doaj   +2 more sources

Bayesian Genome-wide TWAS method to leverage both cis- and trans- eQTL information through summary statistics [PDF]

bioRxiv, 2020
Transcriptome-wide association studies (TWAS) have been widely used to integrate gene expression and genetic data for studying complex traits. Due to the computational burden, existing TWAS methods do not assess distant trans- expression quantitative ...
Justin M. Luningham, Junyu Chen, Shizhen Tang, Philip L. De Jager, David A. Bennett, Aron S. Buchman, Jingjing Yang   +6 more
openalex   +2 more sources

Summary statistics of learning link changing neural representations to behavior [PDF]

Frontiers in Neural Circuits
How can we make sense of large-scale recordings of neural activity across learning? Theories of neural network learning with their origins in statistical physics offer a potential answer: for a given task, there are often a small set of summary ...
Jacob A. Zavatone-Veth, Jacob A. Zavatone-Veth, Blake Bordelon, Blake Bordelon, Cengiz Pehlevan, Cengiz Pehlevan, Cengiz Pehlevan   +6 more
doaj   +2 more sources

Discovering non-additive heritability using additive GWAS summary statistics [PDF]

eLife
LD score regression (LDSC) is a method to estimate narrow-sense heritability from genome-wide association study (GWAS) summary statistics alone, making it a fast and popular approach.
Samuel Pattillo Smith, Gregory Darnell, Dana Udwin, Julian Stamp, Arbel Harpak, Sohini Ramachandran, Lorin Crawford   +6 more
doaj   +2 more sources