Human genomics articles

The tools available to scientists and clinicians in the field of genetics are evolving rapidly. While genotyping microarrays once dominated the field, next-generation sequencing (NGS) technologies are becoming increasingly popular. This is particularly true among researchers studying pharmacogenomics (PGx). In recent years, the number of variants linked to an altered drug response has grown rapidly and consequently put a spotlight on the critical failings of microarrays.

In the following blog, we will demonstrate how to perform analyses of population scale genomic data using Gencove Explorer. Broadly, we will explore fine-scale population structure in the form of rare variant sharing between samples deriving from the high-depth whole genome sequencing (WGS) dataset of the combined 1000 Genomes Project (1KG) and Human Genome Diversity Panel (HGDP) released as part of gnomAD v3.2.1.

The recent release of Whole Genome Sequencing (WGS) data for 490,640 participants in the UK Biobank (UKBB) has presented researchers with opportunities for comprehensive assessment of genomic risk factors underlying disease at an unprecedented resolution and scale. With the release of this data, we wanted to explore two traits of interest, Body Mass Index (BMI) and Type II Diabetes (T2D), to understand how increased resolution on genome-wide associations for these traits.

Investigating the genetic basis of complex human traits is a pivotal endeavor in modern biomedical research. In a recent study, researchers at the Weizmann Institute of Science delved into a deep repository of clinical and genetic data to unravel the genetic associations across a range of disease phenotypes.

In this blog post, we describe some imputation performance benchmarks for a recently released haplotype reference panel from the Martin Lab comprising haplotypes from high-depth sequence data from the 1000 Genomes project and the Human Genome Diversity Project and compare them against corresponding benchmarks for the New York Genome Center's resequencing effort of the 1000 Genomes project.

Pharmaceutical companies use Whole Exome Sequencing (WES) in their drug discovery and development process. However, R&D teams still need a comprehensive view of genomic variation outside the exome. Historically, the only way to augment WES was with arrays, but now pharma companies have an alternative - low-pass whole genome sequencing.