4.8 Article

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Annalisa Buniello et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

Defining the distinct, intrinsic properties of the novel type I interferon, IFNε

Sebastian A. Stifter et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2018)

Review Genetics & Heredity

Human gene essentiality

Istvan Bartha et al.

NATURE REVIEWS GENETICS (2018)

Article Transplantation

A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy

Karl L. Skorecki et al.

NEPHROLOGY DIALYSIS TRANSPLANTATION (2018)

Article Biochemistry & Molecular Biology

Ensembl 2018

Daniel R. Zerbino et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Biochemistry & Molecular Biology

Loose ends: almost one in five human genes still have unresolved coding status

Federico Abascal et al.

NUCLEIC ACIDS RESEARCH (2018)

Review Immunology

Human genetics of infectious diseases: Unique insights into immunological redundancy

Jean-Laurent Casanova et al.

SEMINARS IN IMMUNOLOGY (2018)

Article Genetics & Heredity

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Regie Lyn P. Santos-Cortez et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Multidisciplinary Sciences

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Danish Saleheen et al.

NATURE (2017)

Review Multidisciplinary Sciences

Tracing the peopling of the world through genomics

Rasmus Nielsen et al.

NATURE (2017)

Article Microbiology

APOLs with low pH dependence can kill all African trypanosomes

Frederic Fontaine et al.

NATURE MICROBIOLOGY (2017)

Article Biochemistry & Molecular Biology

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

Ali Abdullah Alfaiz et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Biochemistry & Molecular Biology

ClinVar: public archive of interpretations of clinically relevant variants

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Genetics & Heredity

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

Matthieu Deschamps et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Biochemistry & Molecular Biology

The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery

Hendrik G. Stunnenberg et al.

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Genetics & Heredity

The rules and impact of nonsense-mediated mRNA decay in human cancers

Rik G. H. Lindeboom et al.

NATURE GENETICS (2016)

Article Multidisciplinary Sciences

Health and population effects of rare gene knockouts in adult humans with related parents

Vagheesh M. Narasimhan et al.

SCIENCE (2016)

Review Biochemistry & Molecular Biology

Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?

Vagheesh M. Narasimhan et al.

TRENDS IN MOLECULAR MEDICINE (2016)

Article Mathematical & Computational Biology

The Ensembl gene annotation system

Bronwen L. Aken et al.

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2016)

Article Multidisciplinary Sciences

A critical role of solute carrier 22a14 in sperm motility and male fertility in mice

Shin-ya Maruyama et al.

SCIENTIFIC REPORTS (2016)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Letter Infectious Diseases

Frequency of CCR5 genotypes in HIV-infected patients in Roraima, Brazil

Andre de Lima Guerra Corado et al.

BRAZILIAN JOURNAL OF INFECTIOUS DISEASES (2016)

Review Genetics & Heredity

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Jessica X. Chong et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Article Genetics & Heredity

Identification of a large set of rare complete human knockouts

Patrick Sulem et al.

NATURE GENETICS (2015)

Article Multidisciplinary Sciences

The human gene damage index as a gene-level approach to prioritizing exome variants

Yuval Itan et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

Review Genetics & Heredity

Human knockout research: new horizons and opportunities

Fowzan S. Alkuraya

TRENDS IN GENETICS (2015)

Article Cell Biology

Cell-type Phylogenetics and the Origin of Endometrial Stromal Cells

Koryu Kin et al.

CELL REPORTS (2015)

Article Genetics & Heredity

Mapping Bias Overestimates Reference Allele Frequencies at the HLA Genes in the 1000 Genomes Project Phase I Data

Debora Y. C. Brandt et al.

G3-GENES GENOMES GENETICS (2015)

Article Biochemical Research Methods

Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes

Antonio Rausell et al.

PLOS COMPUTATIONAL BIOLOGY (2014)

Article Biochemistry & Molecular Biology

Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations

Helene Quach et al.

HUMAN MOLECULAR GENETICS (2013)

Article Biochemistry & Molecular Biology

Current relaxation of selection on the human genome: Tolerance of deleterious mutations on olfactory receptors

Denis Pierron et al.

MOLECULAR PHYLOGENETICS AND EVOLUTION (2013)

Editorial Material Genetics & Heredity

The Genotype-Tissue Expression (GTEx) project

John Lonsdale et al.

NATURE GENETICS (2013)

Article Biochemistry & Molecular Biology

APPRIS: annotation of principal and alternative splice isoforms

Jose Manuel Rodriguez et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Genetics & Heredity

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Slave Petrovski et al.

PLOS GENETICS (2013)

Review Immunology

Population genetic tools for dissecting innate immunity in humans

Lluis Quintana-Murci et al.

NATURE REVIEWS IMMUNOLOGY (2013)

Article Multidisciplinary Sciences

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur et al.

SCIENCE (2012)

Article Biochemical Research Methods

SnIPRE: Selection Inference Using a Poisson Random Effects Model

Kirsten E. Eilertson et al.

PLOS COMPUTATIONAL BIOLOGY (2012)

Review Immunology

Human TLRs and IL-1Rs in Host Defense: Natural Insights from Evolutionary, Epidemiological, and Clinical Genetics

Jean-Laurent Casanova et al.

ANNUAL REVIEW OF IMMUNOLOGY, VOL 29 (2011)

Article Immunology

Evolutionary genetic dissection of human interferons

Jeremy Manry et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2011)

Article Biochemistry & Molecular Biology

Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease

Dermot P. B. McGovern et al.

HUMAN MOLECULAR GENETICS (2010)

Article Genetics & Heredity

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente et al.

NATURE GENETICS (2010)

Review Genetics & Heredity

From evolutionary genetics to human immunology: how selection shapes host defence genes

Luis B. Barreiro et al.

NATURE REVIEWS GENETICS (2010)

Article Biology

Divergence, demography and gene loss along the human lineage

Hie Lim Kim et al.

PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2010)

Article Multidisciplinary Sciences

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

Giulio Genovese et al.

SCIENCE (2010)

Article Biochemical Research Methods

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

Eugene V. Davydov et al.

PLOS COMPUTATIONAL BIOLOGY (2010)

Article Biochemistry & Molecular Biology

A Natural History of FUT2 Polymorphism in Humans

Anna Ferrer-Admetlla et al.

MOLECULAR BIOLOGY AND EVOLUTION (2009)

Article Biochemical Research Methods

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

Da Wei Huang et al.

NATURE PROTOCOLS (2009)

Article Medicine, General & Internal

Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections

Bart Ferwerda et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Biochemistry & Molecular Biology

Ensembl 2009

T. J. P. Hubbard et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Biochemistry & Molecular Biology

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Francois-Olivier Desmet et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Biochemistry & Molecular Biology

Overdominance in the human genome and olfactory receptor activity

Santos Alonso et al.

MOLECULAR BIOLOGY AND EVOLUTION (2008)

Review Genetics & Heredity

The evolution of animal chemosensory receptor gene repertoires: roles of chance and necessity

Masatoshi Nei et al.

NATURE REVIEWS GENETICS (2008)

Review Immunology

Mendelian resistance to human norovirus infections

Jacques Le Pendu et al.

SEMINARS IN IMMUNOLOGY (2006)

Correction Biochemistry & Molecular Biology

A map of recent positive selection in the human genome (vol 4, pg 154, 2006)

BF Voight et al.

PLOS BIOLOGY (2006)

Article Biochemistry & Molecular Biology

Gene losses during human origins

XX Wang et al.

PLOS BIOLOGY (2006)

Article Biochemistry & Molecular Biology

A map of recent positive selection in the human genome

BF Voight et al.

PLOS BIOLOGY (2006)

Article Medicine, Research & Experimental

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

G Courtois et al.

JOURNAL OF CLINICAL INVESTIGATION (2003)

Article Biochemistry & Molecular Biology

Human susceptibility and resistance to Norwalk virus infection

L Lindesmith et al.

NATURE MEDICINE (2003)

Article Multidisciplinary Sciences

Apolipoprotein L-I is the trypanosome lytic factor of human serum

L Vanhamme et al.

NATURE (2003)

Article Biochemistry & Molecular Biology

Population differences in the human functional olfactory repertoire

Y Gilad et al.

MOLECULAR BIOLOGY AND EVOLUTION (2003)

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)