Article

An efficient design for whole genome trio sequencing identifies key variants in rare neurological disorder cases

2023-10-13

Abstract excerpt

We sequenced nine trios in which the probands in an underserved population were affected by a rare and undiagnosed disorder with neurological features. Sequencing was performed with one trio per flowcell on a benchtop sequencing instrument, leveraging the design of sequencing the proband at twice the coverage of the parents. The reduced coverage in the parents led to sequencing efficiencies while retaining the ben...

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Literature Corpus work: 67dceb7d-a4b5-5356-b0e2-5f4fe7a0703d
DOI: 10.1101/2023.10.13.23296768

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