A statistical variant calling approach from pedigree information and local haplotyping with phase informative reads.

Abstract excerpt

MOTIVATION: Variant calling from genome-wide sequencing data is essential for the analysis of disease-causing mutations and elucidation of disease mechanisms. However, variant calling in low coverage regions is difficult due to sequence read errors and mapping errors. Hence, variant calling approaches that are robust to low coverage data are demanded. RESULTS: We propose a new variant calling approach that...

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