Exploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits

Autophagy: Nobel Prize 2016 and allergy and asthma research

(2017) Harald Renz   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The nasal methylome and childhood atopic asthma

(2017) Ivana V. Yang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Role of neuropilin-2 in the immune system

(2017) S. Schellenburg et al.   MOLECULAR IMMUNOLOGY

Rare and low-frequency coding variants alter human adult height

(2017) Eirini Marouli et al.   NATURE

Rare non-coding variants are associated with plasma lipid traits in a founder population

(2017) Catherine Igartua et al.   Scientific Reports

Fine-Scale Genetic Structure in Finland

(2017) Sini Kerminen et al.   G3-Genes Genomes Genetics

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

(2017) Dirk Smith et al.   PLoS Genetics

Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

(2016) Andréanne Morin et al.   BMC Medical Genomics

When Is Selection Effective?

(2016) Simon Gravel   GENETICS

When Is Selection Effective?

(2016) Simon Gravel   GENETICS

Association between the rs3795879 G/A polymorphism of the SERPINE2 gene and chronic obstructive pulmonary disease: a meta-analysis

(2015) D.B. Tian et al.   GENETICS AND MOLECULAR RESEARCH

An epigenome-wide association study of total serum immunoglobulin E concentration

(2015) Liming Liang et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

(2015) Ron Do et al.   NATURE GENETICS

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

(2015) Carlo Sidore et al.   NATURE GENETICS

Estimating the mutation load in human genomes

(2015) Brenna M. Henn et al.   NATURE REVIEWS GENETICS

Distance from sub-Saharan Africa predicts mutational load in diverse human genomes

(2015) Brenna M. Henn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma

(2015) Catherine Igartua et al.   Nature Communications

The Saguenay-Lac-Saint-Jean asthma familial collection: the genetics of asthma in a young founder population

(2014) C Laprise   GENES AND IMMUNITY

Mitochondria in the Center of Human Eosinophil Apoptosis and Survival

(2014) Pinja Ilmarinen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

(2014) Ida Moltke et al.   NATURE

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

(2014) Olivier Delaneau et al.   Nature Communications

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

(2013) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide patterns of identity-by-descent sharing in the French Canadian founder population

(2013) Héloïse Gauvin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

(2013) Ferran Casals et al.   PLoS Genetics

Resequencing Candidate Genes Implicates Rare Variants in Asthma Susceptibility

(2012) Dara G. Torgerson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ATG5, autophagy and lung function in asthma

(2012) Audrey Poon et al.   Autophagy

A high-performance computing toolset for relatedness and principal component analysis of SNP data

(2012) X. Zheng et al.   BIOINFORMATICS

Autophagy and role in asthma

(2012) Soma S.S.K. Jyothula et al.   CURRENT OPINION IN PULMONARY MEDICINE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

Functional Variant in the Autophagy-Related 5 Gene Promotor is Associated with Childhood Asthma

(2012) Lisa J. Martin et al.   PLoS One

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Association of SERPINE2 With Asthma

(2011) Blanca E. Himes et al.   CHEST

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Age-Dependent Recombination Rates in Human Pedigrees

(2011) Julie Hussin et al.   PLoS Genetics

FYCO1: Linking autophagosomes to microtubule plus end-directing molecular motors

(2010) Serhiy Pankiv et al.   Autophagy

Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases

(2010) Koichi Fujimoto et al.   BMC Medical Genetics

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A Large-Scale, Consortium-Based Genomewide Association Study of Asthma

(2010) Miriam F. Moffatt et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE