FamAnn: an automated variant annotation pipeline to facilitate target discovery for family-based sequencing studies.

Abstract excerpt

FamAnn is an automated variant annotation pipeline designed for facilitating target discovery for family-based sequencing studies. It can apply a different inheritance pattern or a de novo mutations discovery model to each family and select single nucleotide variants and small insertions and deletions segregating in each family or shared by multiple families. It also provides a variety of variant annotations and...

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