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Fig. 1 | Human Genomics

Fig. 1

From: A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

Fig. 1

Design of the study. Pipeline: overview of the methods to filter and prioritize WES datasets in autosomal dominant disorders. Datasets were filtered by MAF and Coverage ≥30. Each dataset was analyzed and scored independently by each tool, generating a list of ranked variants or genes. The gene lists obtained were filtered by different control datasets. Finally, the gene lists were merged and yielded a shortlist of variants to be tested experimentally

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Human Genomics

ISSN: 1479-7364