Results 1 to 10 of about 3,292,350 (321)

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

Summary statistics in auditory perception [PDF]

Nature Neuroscience, 2013
Sensory signals are transduced at high resolution, but their structure must be stored in a more compact format. Here we provide evidence that the auditory system summarizes the temporal details of sounds using time-averaged statistics. We measured discrimination of 'sound textures' that were characterized by particular statistical properties, as ...
Schemitsch, Michael, Simoncelli, Eero P, McDermott, Josh   +2 more
openaire   +7 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

The goldmine of GWAS summary statistics: a systematic review of methods and tools [PDF]

BioData Mining
Genome-wide association studies (GWAS) have revolutionized our understanding of the genetic architecture of complex traits and diseases. GWAS summary statistics have become essential tools for various genetic analyses, including meta-analysis, fine ...
Panagiota I. Kontou, Pantelis G. Bagos
doaj   +2 more sources

Non Parametric ROC Summary Statistics

Revstat Statistical Journal, 2022
Receiver operating characteristic (ROC) curves are useful statistical tools for medical diagnostic testing. It has been proved its capability to assess diagnostic marker’s ability to distinguish between healthy and diseased subjects and to compare ...
M.C. Pardo , A.M. Franco-Pereira
doaj   +1 more source

Extracting Summary Statistics of Rapid Numerical Sequences

Frontiers in Psychology, 2021
We examine the ability of observers to extract summary statistics (such as the mean and the relative-variance) from rapid numerical sequences of two digit numbers presented at a rate of 4/s.
David Rosenbaum, Moshe Glickman, Moshe Glickman, Marius Usher   +3 more
doaj   +1 more source

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   +1 more source

Estimating colocalization probability from limited summary statistics

BMC Bioinformatics, 2021
Background Colocalization is a statistical method used in genetics to determine whether the same variant is causal for multiple phenotypes, for example, complex traits and gene expression.
Emily A. King, Fengjiao Dunbar, Justin Wade Davis, Jacob F. Degner   +3 more
doaj   +1 more source

Learning Summary Statistics for Bayesian Inference with Autoencoders

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   +1 more source

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   +1 more source