Additional file 2: of Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals
Vikas Bansal
Johann Gassenhuber
Tierney Phillips
Glenn Oliveira
Rebecca Harbaugh
Nikki Villarasa
Eric Topol
Thomas Seufferlein
Bernhard Boehm
10.6084/m9.figshare.5674108.v1
https://springernature.figshare.com/articles/journal_contribution/Additional_file_2_of_Spectrum_of_mutations_in_monogenic_diabetes_genes_identified_from_high-throughput_DNA_sequencing_of_6888_individuals/5674108
Supplementary 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)
2017-12-06 05:00:00
High-throughput sequencing
Monogenic diabetes
Pathogenic variants
Type 2 diabetes
MODY
DNA pooling
Targeted sequencing