User profiles for Yakir A. Reshef
Yakir ReshefVerified email at broadinstitute.org Cited by 9643 |
Detecting novel associations in large data sets
Identifying interesting relationships between pairs of variables in large data sets is increasingly
important. Here, we present a measure of dependence for two-variable relationships: the …
important. Here, we present a measure of dependence for two-variable relationships: the …
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
We introduce an approach to identify disease-relevant tissues and cell types by analyzing
gene expression data together with genome-wide association study (GWAS) summary …
gene expression data together with genome-wide association study (GWAS) summary …
Sequential regulatory activity prediction across chromosomes with convolutional neural networks
Models for predicting phenotypic outcomes from genotypes have important applications to
understanding genomic function and improving human health. Here, we develop a machine-…
understanding genomic function and improving human health. Here, we develop a machine-…
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
The selective pressures that shape clonal evolution in healthy individuals are largely unknown.
Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb long, …
Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb long, …
Measuring dependence powerfully and equitably
YA Reshef, DN Reshef, HK Finucane, PC Sabeti… - Journal of Machine …, 2016 - jmlr.org
Given a high-dimensional data set, we often wish to find the strongest relationships within it.
A common strategy is to evaluate a measure of dependence on every variable pair and …
A common strategy is to evaluate a measure of dependence on every variable pair and …
Reference-based phasing using the Haplotype Reference Consortium panel
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing
is generally performed via statistical phasing in a genotyped cohort, an approach that can …
is generally performed via statistical phasing in a genotyped cohort, an approach that can …
Co-varying neighborhood analysis identifies cell populations associated with phenotypes of interest from single-cell transcriptomics
As single-cell datasets grow in sample size, there is a critical need to characterize cell states
that vary across samples and associate with sample attributes, such as clinical phenotypes. …
that vary across samples and associate with sample attributes, such as clinical phenotypes. …
Estimating cross‐population genetic correlations of causal effect sizes
Recent studies have examined the genetic correlations of single‐nucleotide polymorphism (SNP)
effect sizes across pairs of populations to better understand the genetic architectures …
effect sizes across pairs of populations to better understand the genetic architectures …
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk
Biological interpretation of genome-wide association study data frequently involves assessing
whether SNPs linked to a biological process, for example, binding of a transcription factor, …
whether SNPs linked to a biological process, for example, binding of a transcription factor, …
An empirical study of the maximal and total information coefficients and leading measures of dependence
DN Reshef, YA Reshef, PC Sabeti, M Mitzenmacher - 2018 - projecteuclid.org
… The first states roughly that an equitable measure of dependence gives similar scores to
equally noisy relationships of different types [Reshef et al. (2011)]. In this viewpoint, a highly …
equally noisy relationships of different types [Reshef et al. (2011)]. In this viewpoint, a highly …