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

ABSTRACT:

Background

Historically, geneticists have relied on genotyping arrays and imputation to study human genetic variation. However, an underrepresentation of diverse populations has resulted in arrays that poorly capture global genetic variation, and a lack of reference panels. This has contributed to deepening global health disparities. Whole genome sequencing (WGS) better captures genetic variation but remains prohibitively expensive. Thus, we explored WGS at "mid-pass" 1-7x coverage.

Results

Here, we developed and benchmarked methods for mid-pass sequencing. When applied to a population without an existing genomic reference panel, 4x mid-pass performed consistently well across ethnicities, with high recall (98%) and precision (97.5%).

Conclusion

Compared to array data

SUBMITTER: Emde AK 

PROVIDER: S-EPMC8559369 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature