Regulatory genome variants in human susceptibility to infection

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

(2019) Pejman Mohammadi et al.   SCIENCE

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

(2019) Alex Wells et al.   Nature Communications

Deep learning of genomic variation and regulatory network data

(2018) Amalio Telenti et al.   HUMAN MOLECULAR GENETICS

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

(2018) Ithaisa Sologuren et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The human noncoding genome defined by genetic diversity

(2018) Julia di Iulio et al.   NATURE GENETICS

Predicting the clinical impact of human mutation with deep neural networks

(2018) Laksshman Sundaram et al.   NATURE GENETICS

Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors

(2018) Etienne Patin et al.   NATURE IMMUNOLOGY

Paternally inherited cis-regulatory structural variants are associated with autism

(2018) William M. Brandler et al.   SCIENCE

What do primary immunodeficiencies tell us about the essentiality/redundancy of immune responses?

(2018) Alain Fischer et al.   SEMINARS IN IMMUNOLOGY

Human genetics of infectious diseases: Unique insights into immunological redundancy

(2018) Jean-Laurent Casanova et al.   SEMINARS IN IMMUNOLOGY

Long Non-coding RNAs: Regulators of Viral Infection and the Interferon Antiviral Response

(2018) Lipeng Qiu et al.   Frontiers in Microbiology

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

(2018) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Enhancer redundancy provides phenotypic robustness in mammalian development

(2018) Marco Osterwalder et al.   NATURE

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

Variation in the Untranslated Genome and Susceptibility to Infections

(2018) Veron Ramsuran et al.   Frontiers in Immunology

Identification and characterization of GLDC as host susceptibility gene to severe influenza

(2018) Jie Zhou et al.   EMBO Molecular Medicine

Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

(2018) Bertrand Boisson et al.   JOURNAL OF CLINICAL INVESTIGATION

A primer on deep learning in genomics

(2018) James Zou et al.   NATURE GENETICS

High-resolution genome-wide functional dissection of transcriptional regulatory regions and nucleotides in human

(2018) Xinchen Wang et al.   Nature Communications

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

(2017) Loren D M Pena et al.   GENETICS IN MEDICINE

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

(2017) Ian T. Lamborn et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data

(2017) Yi-Fei Huang et al.   NATURE GENETICS

Human gene essentiality

(2017) István Bartha et al.   NATURE REVIEWS GENETICS

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

(2017) Ayal B. Gussow et al.   PLoS One

Severe viral respiratory infections in children withIFIH1loss-of-function mutations

(2017) Samira Asgari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges

(2017) Barbara Piasecka et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2017) Sarah Kim-Hellmuth et al.   Nature Communications

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

(2016) Damian Smedley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Host genetics of severe influenza: from mouse Mx1 to human IRF7

(2016) Michael J Ciancanelli et al.   CURRENT OPINION IN IMMUNOLOGY

Exome and genome sequencing for inborn errors of immunity

(2016) Isabelle Meyts et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A spectral approach integrating functional genomic annotations for coding and noncoding variants

(2016) Iuliana Ionita-Laza et al.   NATURE GENETICS

Primary Immunodeficiencies and Inflammatory Disease: A Growing Genetic Intersection

(2016) Nassima Fodil et al.   TRENDS IN IMMUNOLOGY

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

(2015) Hashem A. Shihab et al.   BIOINFORMATICS

Non-coding genetic variants in human disease: Figure 1.

(2015) Feng Zhang et al.   HUMAN MOLECULAR GENETICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C

(2015) Borbala Mifsud et al.   NATURE GENETICS

Predicting effects of noncoding variants with deep learning–based sequence model

(2015) Jian Zhou et al.   NATURE METHODS

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

(2015) M. J. Ciancanelli et al.   SCIENCE

A genomic portrait of the genetic architecture and regulatory impact of microRNA expression in response to infection

(2014) K. J. Siddle et al.   GENOME RESEARCH

Genetic and epigenetic fine mapping of causal autoimmune disease variants

(2014) Kyle Kai-How Farh et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Defining functional DNA elements in the human genome

(2014) M. Kellis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression

(2014) B. P. Fairfax et al.   SCIENCE

Pathogenic variants in non-protein-coding sequences

(2013) P Makrythanasis et al.   CLINICAL GENETICS

A high-resolution map of the three-dimensional chromatin interactome in human cells

(2013) Fulai Jin et al.   NATURE

Enhancer mutations and phenotype modularity

(2013) Christopher T Gordon et al.   NATURE GENETICS

Genome-Wide Quantitative Enhancer Activity Maps Identified by STARR-seq

(2013) C. D. Arnold et al.   SCIENCE

Adult-Onset Immunodeficiency in Thailand and Taiwan

(2012) Sarah K. Browne et al.   NEW ENGLAND JOURNAL OF MEDICINE

Non-coding RNAs in human disease

(2011) Manel Esteller   NATURE REVIEWS GENETICS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Predicting functional regulatory polymorphisms

(2008) Ali Torkamani et al.   BIOINFORMATICS

Evidence for a Heritable Predisposition to Death Due to Influenza

(2007) Frederick S. Albright et al.   JOURNAL OF INFECTIOUS DISEASES