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Genomic Analysis in the Age of Human Genome Sequencing

Cell, 2019-03, Vol.177 (1), p.70-84

2019

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Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells

Cell, 2021-01, Vol.184 (1), p.92-105.e16

2021

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The impact of genetically controlled splicing on exon inclusion and protein structure

PloS one, 2024, Vol.19 (3), p.e0291960-e0291960

2024

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Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

Nature genetics, 2018-09, Vol.50 (9), p.1327-1334

2018

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A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

PLoS genetics, 2017-03, Vol.13 (3), p.e1006659-e1006659

2017

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The human transcriptome across tissues and individuals

Science (American Association for the Advancement of Science), 2015-05, Vol.348 (6235), p.660-665

2015

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Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells

PLoS genetics, 2017-03, Vol.13 (3), p.e1006643-e1006643

2017

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Transcriptome variation in human tissues revealed by long-read sequencing

Nature (London), 2022-08, Vol.608 (7922), p.353-359

2022

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Passive and active DNA methylation and the interplay with genetic variation in gene regulation

eLife, 2013-06, Vol.2, p.e00523-e00523

2013

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On the cross-population generalizability of gene expression prediction models

PLoS genetics, 2020-08, Vol.16 (8), p.e1008927-e1008927

2020

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Transcriptome and genome sequencing uncovers functional variation in humans

Nature (London), 2013-09, Vol.501 (7468), p.506-511

2013

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The genetic and mechanistic basis for variation in gene regulation

PLoS genetics, 2015-01, Vol.11 (1), p.e1004857-e1004857

2015

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Shared genetic regulatory networks for cardiovascular disease and type 2 diabetes in multiple populations of diverse ethnicities in the United States

PLoS genetics, 2017-09, Vol.13 (9), p.e1007040-e1007040

2017

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Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Nature communications, 2016-09, Vol.7 (1), p.12817-6, Article 12817

2016

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Genome-wide DNA methylation and gene expression patterns reflect genetic ancestry and environmental differences across the Indonesian archipelago

PLoS genetics, 2020-05, Vol.16 (5), p.e1008749-e1008749

2020

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Integrative approach identifies SLC6A20 and CXCR6 as putative causal genes for the COVID-19 GWAS signal in the 3p21.31 locus

Genome Biology, 2021-08, Vol.22 (1), p.242-242, Article 242

2021

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Transcription factor regulation of eQTL activity across individuals and tissues

PLoS genetics, 2022-01, Vol.18 (1), p.e1009719-e1009719

2022

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Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations

Nature communications, 2017-08, Vol.8 (1), p.266-10, Article 266

2017

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Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Science (American Association for the Advancement of Science), 2019-10, Vol.366 (6463), p.351-356

2019

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Prostaglandins and calprotectin are genetically and functionally linked to the Inflammatory Bowel Diseases

PLoS genetics, 2022-09, Vol.18 (9), p.e1010189

2022

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Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

Science (American Association for the Advancement of Science), 2013-11, Vol.342 (6159), p.744-747

2013

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Detecting cell-type-specific allelic expression imbalance by integrative analysis of bulk and single-cell RNA sequencing data

PLoS genetics, 2021-03, Vol.17 (3), p.e1009080-e1009080

2021

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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

PLoS genetics, 2015-01, Vol.11 (1), p.e1004958-e1004958

2015

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Evaluation of noninvasive biospecimens for transcriptome studies

BMC genomics, 2023-12, Vol.24 (1), p.790-790, Article 790

2023

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A vast resource of allelic expression data spanning human tissues

Genome Biology, 2020-09, Vol.21 (1), p.234-234, Article 234

2020

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Genomic Analysis in the Age of Human Genome Sequencing

Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells

The impact of genetically controlled splicing on exon inclusion and protein structure

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

The human transcriptome across tissues and individuals

Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells

Transcriptome variation in human tissues revealed by long-read sequencing

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

On the cross-population generalizability of gene expression prediction models

Transcriptome and genome sequencing uncovers functional variation in humans

The genetic and mechanistic basis for variation in gene regulation

Shared genetic regulatory networks for cardiovascular disease and type 2 diabetes in multiple populations of diverse ethnicities in the United States

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Genome-wide DNA methylation and gene expression patterns reflect genetic ancestry and environmental differences across the Indonesian archipelago

Integrative approach identifies SLC6A20 and CXCR6 as putative causal genes for the COVID-19 GWAS signal in the 3p21.31 locus

Transcription factor regulation of eQTL activity across individuals and tissues

Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Prostaglandins and calprotectin are genetically and functionally linked to the Inflammatory Bowel Diseases

Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

Detecting cell-type-specific allelic expression imbalance by integrative analysis of bulk and single-cell RNA sequencing data

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

Evaluation of noninvasive biospecimens for transcriptome studies

A vast resource of allelic expression data spanning human tissues

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