Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

Both rare and common genetic variants contribute to autism in the Faroe Islands

(2019) Claire S Leblond et al.   npj Genomic Medicine

SNP and indel frequencies at transcription start sites and at canonical and alternative translation initiation sites in the human genome

(2019) Kerstin Neininger et al.   PLoS One

The genetic landscape of Scotland and the Isles

(2019) Edmund Gilbert et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cohort Profile Update: The Lothian Birth Cohorts of 1921 and 1936

(2018) Adele M Taylor et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Runs of homozygosity: windows into population history and trait architecture

(2018) Francisco C. Ceballos et al.   NATURE REVIEWS GENETICS

Understanding the Hidden Complexity of Latin American Population Isolates

(2018) Jazlyn A. Mooney et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

(2018) Arthur Gilly et al.   Nature Communications

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

(2017) Himanshu Chheda et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The promise of discovering population-specific disease-associated genes in South Asia

(2017) Nathan Nakatsuka et al.   NATURE GENETICS

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

(2017) Lorraine Southam et al.   Nature Communications

Whole-exome sequencing in an isolated population from the Dalmatian island of Vis

(2016) Ana Jeroncic et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit

(2016) Casper-Emil T. Pedersen et al.   GENETICS

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

(2016) Monkol Lek et al.   NATURE

The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit

(2016) Casper-Emil T. Pedersen et al.   GENETICS

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   BIOPRESERVATION AND BIOBANKING

The frequent evolutionary birth and death of functional promoters in mouse and human

(2015) Robert S. Young et al.   GENOME RESEARCH

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

(2015) Vera B. Kaiser et al.   HUMAN MOLECULAR GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

Global diversity, population stratification, and selection of human copy-number variation

(2015) Peter H. Sudmant et al.   SCIENCE

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   Biopreservation and Biobanking

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent

(2014) Jeffrey Staples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland

(2014) Sophie R. Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SAMBLASTER: fast duplicate marking and structural variant read extraction

(2014) G. G. Faust et al.   BIOINFORMATICS

Using population isolates in genetic association studies

(2014) K. Hatzikotoulas et al.   Briefings in Functional Genomics

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Using genetically isolated populations to understand the genomic basis of disease

(2014) Eleftheria Zeggini   Genome Medicine

Long Runs of Homozygosity Are Enriched for Deleterious Variation

(2013) Zachary A. Szpiech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genomic signature of trait-associated variants

(2013) Alida S Kindt et al.   BMC GENOMICS

Inference of identity by descent in population isolates and optimal sequencing studies

(2013) Dominik Glodzik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomic Patterns of Homozygosity in Worldwide Human Populations

(2012) Trevor J. Pemberton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Low-Pass Genome-Wide Sequencing and Variant Inference Using Identity-by-Descent in an Isolated Human Population

(2011) A. Gusev et al.   GENETICS

Cohort Profile: The Lothian Birth Cohorts of 1921 and 1936

(2011) I. J. Deary et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Genomic Runs of Homozygosity Record Population History and Consanguinity

(2010) Mirna Kirin et al.   PLoS One

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effect of Variation inCHI3L1on Serum YKL-40 Level, Risk of Asthma, and Lung Function

(2008) Carole Ober et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiple Genetic Loci for Bone Mineral Density and Fractures

(2008) Unnur Styrkarsdottir et al.   NEW ENGLAND JOURNAL OF MEDICINE

Isolated populations and complex disease gene identification

(2008) Kati Kristiansson et al.   GENOME BIOLOGY