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19982025
most citedSecond-generation PLINK: rising to the challenge of larger and richer datasets

14.3k citations

Showing q-bio.GNShow all

7 papers · 1 filter

q-bio.GN2025

Advancing Risk Gene Discovery Across the Allele Frequency Spectrum

Madison Caballero, Behrang Mahjani

The discovery of genetic risk factors has transformed human genetics, yet the pace of new gene identification has slowed despite the exponential expansion of sequencing and biobank…

q-bio.GN2019★ 23 cited

Organizing genome engineering for the gigabase scale

Bryan A. Bartley, Jacob Beal, Jonathan R. Karr +1

Engineering the entire genome of an organism enables large-scale changes in organization, function, and external interactions, with significant implications for industry, medicine,…

q-bio.GN2019

Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics

Azam Yazdani, Akram Yazdani, Sarah H. Elsea +4

Background: Many genome-wide association studies have detected genomic regions associated with traits, yet understanding the functional causes of association often remains elusive.…

q-bio.GN2018★ 3 cited

Insights into Complex Brain Functions Related to Schizophrenia Disorder through Causal Network Analysis

Akram Yazdani, Raul Mendez Giraldez, Ahmad Samiei

Gene expression represents a fundamental interface between genes and environment in the development and ongoing plasticity of the human organism. Individual differences in gene exp…

q-bio.GN2014★ 14.3k cited

Second-generation PLINK: rising to the challenge of larger and richer datasets

Christopher C. Chang, Carson C. Chow, Laurent C. A. M. Tellier +3

PLINK 1 is a widely used open-source C/C++ toolset for genome-wide association studies (GWAS) and research in population genetics. However, the steady accumulation of data from imp…

q-bio.GN2013★ 4.8k cited

Bayesian Test for Colocalisation Between Pairs of Genetic Association Studies Using Summary Statistics

Claudia Giambartolomei, Damjan Vukcevic, Eric E. Schadt +4

Genetic association studies, in particular the genome-wide association study design, have provided a wealth of novel insights into the aetiology of a wide range of human diseases a…

q-bio.GN2010★ 25 cited

Mapping Dynamic Histone Acetylation Patterns to Gene Expression in Nanog-depleted Murine Embryonic Stem Cells

Florian Markowetz, Klaas W Mulder, Edoardo M Airoldi +2

Embryonic stem cells (ESC) have the potential to self-renew indefinitely and to differentiate into any of the three germ layers. The molecular mechanisms for self-renewal, maintena…