Skip to main content


Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Fig. 1 | Genome Medicine

Fig. 1

From: Lessons learned from additional research analyses of unsolved clinical exome cases

Fig. 1

Analysis of WES data. a SNVs were filtered and prioritized according to specific criteria, including mode of inheritance, mutation type, variant frequency, conservation, and predictions of pathogenicity. b Candidate genes were further prioritized by data mining, taking into consideration gene function, expression, and networks. In addition, other cohorts were interrogated for additional families with variants in the same candidate gene. MutationMapper (, ARIC Atherosclerosis Risk in Communities Study, AR-Hom autosomal recessive-homozygous, BHCMG Baylor-Hopkins Center for Mendelian Genomics, BG Baylor Genetics laboratories, CNV copy number variation, Comp compound, db database, ExAC Exome Aggregation Consortium, Het heterozygous, HGMD Human Gene Mutation Database, MAF minor allele frequency; SNV single nucleotide variant, XLR-Hem X-linked recessive-hemizygous

Back to article page