Twist Bioscience Collaborate with Regeneron for Production of Genotyping by Sequencing Panel to Enable Diverse Genome-wide Screening

"The speaker highlights this news as an alternative approach to their blended genome exome protocol, where array SNPs are directly sequenced by adding capture probes to the exome array, addressing similar needs in the field."

Blended Genome Exome (BGE) as a cost efficient alternative to deep whole genomes or arrays

Matthew DeFelice, Jonna L Grimsby, Daniel Howrigan, Kai Yuan, Sinéad B Chapman, Christine Stevens

bioRxiv, 2024

"This is the primary paper describing the technical development of the Blended Genome Exome (BGE) protocol, which is the core topic of the talk and its cost-efficiency."

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

Toni A Boltz, Benjamin B Chu, Calwing Liao, Julia M Sealock, Robert Ye, Lerato Majara

bioRxivorg, 2024

"Julia Sealock is acknowledged for her contribution to the analysis of mean coverage distributions, demonstrating the performance of BGE in different ancestry cohorts."

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

Toni A Boltz, Benjamin B Chu, Calwing Liao, Julia M Sealock, Robert Ye, Lerato Majara

bioRxivorg, 2024

"This paper is highlighted as the primary work detailing the scaling and evaluation of BGE in a large, multi-ancestry cohort, showcasing its effectiveness in capturing genetic variation."

Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes

S Rubinacci, R Hofmeister, Bárbara Sousa da Mota, O Delaneau

Nature Genetics, 2022

"This BioRxiv preprint describes GLIMPSE2, an improved imputation tool that scales to large datasets and handles low-coverage genomes, which is directly relevant to the BGE protocol."

Efficient phasing and imputation of low-coverage sequencing data using large reference panels

S Rubinacci, Diogo M Ribeiro, R Hofmeister, O Delaneau

Nat. Genet., 2020

"This Nature Genetics paper, along with its BioRxiv counterpart, introduces GLIMPSE2 as an efficient phasing and imputation method for large reference panels, crucial for processing low-coverage genomic data in BGE."

Variant Scientists in genomic medicine: Survey of demographics, training, duties, and professional development

Alexa Dickson, Kelsey R Cone, Barbara K Fortini, Jennifer Goldstein, Michelle L Thompson, Matheus V M B Wilke

medRxiv, 2025

"Jackie Goldstein is acknowledged for her role in developing the BGE toolkit and pipeline, providing essential tools for quality control and concordance analysis of BGE data."