Article

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner

2024-09-09

Abstract excerpt

We deployed the Blended Genome Exome (BGE), a DNA library blending approach that generates low pass whole genome (1-4x mean depth) and deep whole exome (30-40x mean depth) data in a single sequencing run. This technology is cost-effective, empowers most genomic discoveries possible with deep whole genome sequencing, and provides an unbiased method to capture the diversity of common SNP variation across the globe....

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d8eb272e-85a4-5911-8284-a2abafe6c2ae
DOI: 10.1101/2024.09.06.611689

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective mannerDOI 10.1101/2024.09.06.611689Read

A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.Semantic proximity Read

Genomes in a bottle: creating standard reference materials for genomic variation - why, what and how?Semantic proximity Read

A harmonized public resource of deeply sequenced diverse human genomes.Semantic proximity Read

A harmonized public resource of deeply sequenced diverse human genomesSemantic proximity Read

A framework for variation discovery and genotyping using next-generation DNA sequencing data.Semantic proximity Read

Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations.Semantic proximity Read

The large-scale whole-genome sequencing era expedited medical discovery and clinical translationSemantic proximity Read

GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing.Semantic proximity Read

Pangenome-based human genome analysis improves trait association and genomic predictionSemantic proximity Read

Variant discovery in targeted resequencing using whole genome amplified DNA.Semantic proximity Read

A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genomeSemantic proximity Read

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.Semantic proximity Read