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List of works by Jonathan K. Pritchard

A Bibliometric History of the Journal GENETICS.

scientific article published on 07 December 2016

A genome sequence resource for the aye-aye (Daubentonia madagascariensis), a nocturnal lemur from Madagascar

scientific article (publication date: 2012)

A genome-wide genetic screen uncovers determinants of human pigmentation

scientific article published on 10 August 2023

A genome-wide study of DNA methylation patterns and gene expression levels in multiple human and chimpanzee tissues.

scientific article

A high-resolution survey of deletion polymorphism in the human genome

2005 scientific article

A map of recent positive selection in the human genome

scientific article

A statistical framework for joint eQTL analysis in multiple tissues

scientific article

A worldwide survey of haplotype variation and linkage disequilibrium in the human genome

scientific article published on 22 October 2006

Abundant contribution of short tandem repeats to gene expression variation in humans

scientific article

Accurate inference of transcription factor binding from DNA sequence and chromatin accessibility data

scientific article

Adaptation – not by sweeps alone ⬇️

scientific article published on September 14, 2010

Adaptations to climate in candidate genes for common metabolic disorders

scientific article

Adaptations to climate-mediated selective pressures in humans

scientific article

Adaptive drool in the gene pool

article

Adaptive evolution of conserved noncoding elements in mammals

scientific article

Admixture facilitates genetic adaptations to high altitude in Tibet

scientific article

An Expanded View of Complex Traits: From Polygenic to Omnigenic

scientific article (publication date: June 2017)

Ancient Rome: A genetic crossroads of Europe and the Mediterranean

scientific article published on 01 November 2019

Annotation-free quantification of RNA splicing using LeafCutter

scientific article published on 11 December 2017

Assessing the performance of the haplotype block model of linkage disequilibrium

scientific article

Association mapping and fine mapping with TreeLD

scientific article published on 26 April 2005

Batch effects and the effective design of single-cell gene expression studies

scientific article published on 03 January 2017

CRISPR screens decode cancer cell pathways that trigger γδ T cell detection

scientific article published on 30 August 2023

Characterizing natural variation using next-generation sequencing technologies.

scientific article published on 02 October 2009

Chromatin accessibility dynamics in a model of human forebrain development

scientific article published on 01 January 2020

Clines, clusters, and the effect of study design on the inference of human population structure

scientific article published in December 2005

Clonal origin and evolution of a transmissible cancer

scientific article

Coalescent-based association mapping and fine mapping of complex trait loci

scientific article

Colloquium paper: human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency

scientific article

Comment on “Widespread RNA and DNA Sequence Differences in the Human Transcriptome” ⬇️

scientific article published on March 16, 2012

Comparative RNA sequencing reveals substantial genetic variation in endangered primates

scientific article (publication date: April 2012)

Confounding from cryptic relatedness in case-control association studies

scientific article published in September 2005

Controls of nucleosome positioning in the human genome.

scientific article

Convergent adaptation of human lactase persistence in Africa and Europe

scientific article

Coregulation of tandem duplicate genes slows evolution of subfunctionalization in mammals

scientific article

Correction: A Map of Recent Positive Selection in the Human Genome

article by Benjamin F. Voight et al published 12 June 2007 in PLOS Biology

Correction: A Map of Recent Positive Selection in the Human Genome.

scientific article

Correction: DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines.

scientific article published on 3 July 2011

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines

scientific article

DNA sequence-dependent compartmentalization and silencing of chromatin at the nuclear lamina

scientific journal article

DNase I sensitivity QTLs are a major determinant of human expression variation

scientific article

Detection of human adaptation during the past 2000 years

scientific article

Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes

Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes.

scientific article published on 8 May 2018

Dissecting the regulatory architecture of gene expression QTLs

scientific article published on 31 January 2012

Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data

scientific article

Efficient counting of k-mers in DNA sequences using a bloom filter

scientific article

Epigenetic modifications are associated with inter-species gene expression variation in primates

scientific article

Evidence for Weak Selective Constraint on Human Gene Expression

scientific article published on 15 December 2018

Evidence for extensive transmission distortion in the human genome

scientific article

Evolutionary Persistence of DNA Methylation for Millions of Years after Ancient Loss of a De Novo Methyltransferase

scientific article published on 01 February 2020

Evolutionary Persistence of DNA Methylation for Millions of Years after Ancient Loss of a De Novo Methyltransferase

scientific article published on 16 January 2020

Exon-specific QTLs skew the inferred distribution of expression QTLs detected using gene expression array data ⬇️

scientific article (publication date: 2012)

False positive peaks in ChIP-seq and other sequencing-based functional assays caused by unannotated high copy number regions

scientific article

Frequent nonallelic gene conversion on the human lineage and its effect on the divergence of gene duplicates

scientific article published on 14 November 2017

Functional Genetic Variants Revealed by Massively Parallel Precise Genome Editing

scientific article published on 20 September 2018

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

scientific article published in 2021

Gene expression levels are a target of recent natural selection in the human genome

scientific article published on 17 December 2008

Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions

scientific article

Genetic Variation, Not Cell Type of Origin, Underlies the Majority of Identifiable Regulatory Differences in iPSCs

scientific article published on 26 January 2016

Genetic structure of human populations

scientific article (publication date: 20 December 2002)

Genetic variation in MHC proteins is associated with T cell receptor expression biases

scientific article published on August 2016

Genetics of 35 blood and urine biomarkers in the UK Biobank

Genomic variation. Impact of regulatory variation from RNA to protein

scientific article published on 18 December 2014

Genomics: ENCODE explained

scientific article

Haplotype blocks and linkage disequilibrium in the human genome

scientific article

Haplotype variation and genotype imputation in African populations.

scientific article published on December 2011

Haplotypic background of a private allele at high frequency in the Americas.

scientific article published on 12 February 2009

High-resolution mapping of cancer cell networks using co-functional interactions

High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans

scientific article published on 31 January 2008

High-resolution mapping of expression-QTLs yields insight into human gene regulation

scientific article

Identification of genetic variants that affect histone modifications in human cells

scientific article published on 17 October 2013

Impact of regulatory variation across human iPSCs and differentiated cells

Impact of regulatory variation across human iPSCs and differentiated cells.

scientific article published on 5 December 2017

Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data ⬇️

scientific article published on November 15, 2012

Inference of population structure using multilocus genotype data

scientific article (2000)

Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies

scientific article

Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression

scientific article published on 23 October 2017

Informativeness of genetic markers for inference of ancestry.

scientific article published on 20 November 2003

Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences

scientific article published on 27 December 2018

Landscape of stimulation-responsive chromatin across diverse human immune cells

scientific article published on 30 September 2019

Large-Scale Clonal Analysis Resolves Aging of the Mouse Hematopoietic Stem Cell Compartment

scientific article published in April 2018

Lineage-specific and single-cell chromatin accessibility charts human hematopoiesis and leukemia evolution

scientific article published on 15 August 2016

Methylation QTLs are associated with coordinated changes in transcription factor binding, histone modifications, and gene expression levels

scientific article

Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.

scientific article

Narcolepsy risk loci are enriched in immune cells and suggest autoimmune modulation of the T cell receptor repertoire

Noisy splicing drives mRNA isoform diversity in human cells.

scientific article

Post-translational buffering leads to convergent protein expression levels between primates.

scientific article published on 27 June 2018

Primate transcript and protein expression levels evolve under compensatory selection pressures

scientific article published on 17 October 2013

Public Discussion Affects Question Asking at Academic Conferences

scientific article published on 27 June 2019

Quantification of transplant-derived circulating cell-free DNA in absence of a donor genotype

scientific article published on 3 August 2017

RNA splicing is a primary link between genetic variation and disease

scientific article published on 28 April 2016

Rapid evolution of the human mutation spectrum

scientific article

Read all about it: The Lancet's Paper of the Year, 2003.

scientific article published in December 2003

Reduced signal for polygenic adaptation of height in UK Biobank

scientific article published on 21 March 2019

Remodeling the Specificity of an Endosomal CORVET Tether Underlies Formation of Regulated Secretory Vesicles in the Ciliate Tetrahymena thermophila

scientific article published on 22 February 2018

Reprogramming LCLs to iPSCs Results in Recovery of Donor-Specific Gene Expression Signature

scientific article published on 7 May 2015

Revealing the architecture of gene regulation: the promise of eQTL studies

scientific article

Sequencing and analysis of Neanderthal genomic DNA

scientific article

Signals of recent positive selection in a worldwide sample of human populations

scientific article

The chromatin architectural proteins HMGD1 and H1 bind reciprocally and have opposite effects on chromatin structure and gene regulation

scientific article published on February 2014

The contribution of RNA decay quantitative trait loci to inter-individual variation in steady-state gene expression levels

scientific article

The effect of freeze-thaw cycles on gene expression levels in lymphoblastoid cell lines

scientific article

The effects of genotype-dependent recombination, and transmission asymmetry, on linkage disequilibrium

scientific article

The functional consequences of variation in transcription factor binding.

scientific article

The genetic and mechanistic basis for variation in gene regulation

scientific article

The genetic architecture of adaptations to high altitude in Ethiopia

scientific article

The genetics of human adaptation: hard sweeps, soft sweeps, and polygenic adaptation

scientific article (publication date: 23 February 2010)

The role of geography in human adaptation

scientific article

Thousands of novel translated open reading frames in humans inferred by ribosome footprint profiling

scientific article published on 27 May 2016

Traces of human migrations in Helicobacter pylori populations

scientific article

Tracing the peopling of the world through genomics

scientific article

Trans Effects on Gene Expression Can Drive Omnigenic Inheritance

scientific article published on 01 May 2019

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

Using environmental correlations to identify loci underlying local adaptation

scientific article

Variable prediction accuracy of polygenic scores within an ancestry group

scientific article published on 30 January 2020

WASP: allele-specific software for robust molecular quantitative trait locus discovery

scientific article published on 14 September 2015

fastSTRUCTURE: variational inference of population structure in large SNP data sets

scientific article

msCentipede: Modeling Heterogeneity across Genomic Sites and Replicates Improves Accuracy in the Inference of Transcription Factor Binding.

scientific article published on 25 September 2015

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