Article

High Quality Phasing Using Linked-Read Whole Genome Sequencing of Patient Cohorts Informs Genetic Understanding of Complex Traits

2022-03-29

Abstract excerpt

Phasing of heterozygous alleles is critical for interpretation of cis -effects of disease-relevant variation. For population studies, phase is often inferred from external data but read-based phasing approaches that span long genomic distances would be more accurate because they enable both genotype and phase to be obtained from a single dataset. To demonstrate how read-based phasing can provide functional insigh...

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Literature Corpus work: 45489455-8ee7-514f-98e3-cbdeb47aa63a
DOI: 10.1101/2022.03.28.486092

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