Article
A method for low-coverage single-gamete sequence analysis demonstrates adherence to Mendel's first law across a large sample of human sperm.
eLife - 7 Dec 2022
Carioscia Sara A, Weaver Kathryn J, Bortvin Andrew N, Pan Hao, Ariad Daniel, Bell Avery Davis, McCoy Rajiv C
Abstract excerpt
Recently published single-cell sequencing data from individual human sperm (n=41,189; 969-3377 cells from each of 25 donors) offer an opportunity to investigate questions of inheritance with improved statistical power, but require new methods tailored to these extremely low-coverage data (∼0.01× per cell). To this end, we developed a method, named rhapsodi, that leverages sparse gamete genotype data to phase the...
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