GWAS techniques

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Genetic feature engineering enables characterisation of shared risk factors in immune-mediated diseases

Genome-wide association studies (GWAS) have identified pervasive sharing of genetic architectures across multiple immune-mediated diseases (IMD). By learning the genetic basis of IMD risk from common diseases, this sharing can be exploited to enable analysis of less frequent IMD where, due to limited sample size, traditional GWAS techniques are challenging.

17p vibransone 28-03-2024 4 2 Download

Systematic identification of regulatory variants associated with cancer risk

Most cancer risk-associated single nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) are noncoding and it is challenging to assess their functional impacts. To systematically identify the SNPs that affect gene expression by modulating activities of distal regulatory elements, we adapt the self-transcribing active regulatory region sequencing (STARR-seq) strategy, a high-throughput technique to functionally quantify enhancer activities.

14p vialfrednobel 29-01-2022 6 0 Download

Multi-population GWAS and enrichment analyses reveal novel genomic regions and promising candidate genes underlying bovine milk fatty acid composition

The power of genome-wide association studies (GWAS) is often limited by the sample size available for the analysis. Milk fatty acid (FA) traits are scarcely recorded due to expensive and time-consuming analytical techniques.

16p visilicon2711 20-08-2021 15 1 Download
GenEpi: Gene-based epistasis discovery using machine learning

Genome-wide association studies (GWAS) provide a powerful means to identify associations between genetic variants and phenotypes. However, GWAS techniques for detecting epistasis, the interactions between genetic variants associated with phenotypes, are still limited.

13p vicolorado2711 22-10-2020 7 0 Download
Genotyping-by-Sequencing (GBS): An hi throughput genotyping approach for marker-trait association analysis

Exponential cost reduction in sequencing with advances in Next Generation Sequencing (NGS) technologies has contributed to rapid genotyping technology innovations. Genome Complexity Reduction Methods such as Restriction Associated DNA Sequencing (RAD-seq) and Genotyping-by-Sequencing (GBS) have emerged as a strong genotyping tool capable of identifying, sequencing and genotyping not hundreds but thousands of markers across almost any genome of interest, but also numbers of individuals in a single, simple experiment in a population.

8p nguaconbaynhay3 07-02-2020 15 0 Download