User profiles for Yakir A. Reshef

Yakir Reshef

Verified email at broadinstitute.org
Cited by 9643

Detecting novel associations in large data sets

DN Reshef, YA Reshef, HK Finucane, SR Grossman… - science, 2011 - science.org
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 …

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

HK Finucane, YA Reshef, V Anttila, K Slowikowski… - Nature …, 2018 - nature.com
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 …

Sequential regulatory activity prediction across chromosomes with convolutional neural networks

DR Kelley, YA Reshef, M Bileschi, D Belanger… - Genome …, 2018 - genome.cshlp.org
Models for predicting phenotypic outcomes from genotypes have important applications to
understanding genomic function and improving human health. Here, we develop a machine-…

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

…, RE Handsaker, HK Finucane, YA Reshef… - Nature, 2018 - nature.com
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, …

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 …

Reference-based phasing using the Haplotype Reference Consortium panel

…, PF Palamara, C Fuchsberger, YA Reshef… - Nature …, 2016 - nature.com
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 …

Co-varying neighborhood analysis identifies cell populations associated with phenotypes of interest from single-cell transcriptomics

YA Reshef, L Rumker, JB Kang, A Nathan… - Nature …, 2022 - nature.com
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. …

Estimating cross‐population genetic correlations of causal effect sizes

KJ Galinsky, YA Reshef, HK Finucane… - Genetic …, 2019 - Wiley Online Library
Recent studies have examined the genetic correlations of single‐nucleotide polymorphism (SNP)
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

YA Reshef, HK Finucane, DR Kelley, A Gusev… - Nature …, 2018 - nature.com
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, …

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 …