A roadmap to increase diversity in genomic studies
Two decades ago, the sequence of the first human genome was published. Since then,
advances in genome technologies have resulted in whole-genome sequencing and …
advances in genome technologies have resulted in whole-genome sequencing and …
The genetics of obesity: from discovery to biology
The prevalence of obesity has tripled over the past four decades, imposing an enormous
burden on people's health. Polygenic (or common) obesity and rare, severe, early-onset …
burden on people's health. Polygenic (or common) obesity and rare, severe, early-onset …
FinnGen provides genetic insights from a well-phenotyped isolated population
Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
E Sollis, A Mosaku, A Abid, A Buniello… - Nucleic acids …, 2023 - academic.oup.com
Abstract The NHGRI-EBI GWAS Catalog (www. ebi. ac. uk/gwas) is a FAIR knowledgebase
providing detailed, structured, standardised and interoperable genome-wide association …
providing detailed, structured, standardised and interoperable genome-wide association …
Ensembl 2023
FJ Martin, MR Amode, A Aneja… - Nucleic acids …, 2023 - academic.oup.com
Abstract Ensembl (https://www. ensembl. org) has produced high-quality genomic resources
for vertebrates and model organisms for more than twenty years. During that time, our …
for vertebrates and model organisms for more than twenty years. During that time, our …
FinnGen: Unique genetic insights from combining isolated population and national health register data
Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low …
spectrum of damaging alleles in any gene is often concentrated on a small number of low …
The next-generation Open Targets Platform: reimagined, redesigned, rebuilt
Abstract The Open Targets Platform (https://platform. opentargets. org/) is an open source
resource to systematically assist drug target identification and prioritisation using publicly …
resource to systematically assist drug target identification and prioritisation using publicly …
Large-scale integration of the plasma proteome with genetics and disease
E Ferkingstad, P Sulem, BA Atlason… - Nature …, 2021 - nature.com
The plasma proteome can help bridge the gap between the genome and diseases. Here we
describe genome-wide association studies (GWASs) of plasma protein levels measured with …
describe genome-wide association studies (GWASs) of plasma protein levels measured with …
The complete sequence of a human Y chromosome
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …
because of its complex repeat structure that includes long palindromes, tandem repeats and …
Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …