12916_2017_977_MOESM2_ESM.pdf (671.26 kB)
Additional file 2: of Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals
journal contribution
posted on 2017-12-06, 05:00 authored by Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric Topol, Thomas Seufferlein, Bernhard BoehmSupplementary Methods: Description of methods for pooled variant calling, gene-level tests for rare coding variants, statistical analyses, comparison of pooled sequence data with population exome data, comparison of pooled allele counts with individual genotypes, and identification of the carriers of rare variants. (PDF 671 kb)