Selected article for: "CADD score and exome sequencing"
Author: Allison J Cox; Fillan Grady; Gabriel Velez; Vinit B Mahajan; Polly J Ferguson; Andrew Kitchen; Benjamin W Darbro; Alexander G Bassuk
Title: In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
  • Document date: 2018_12_13
    • ID: j5jrpbst_4
    Snippet: Association studies using polymorphisms are LD-based and recent association studies using rare variants compare total variant burden between cases and controls to account for the contributions of multiple alleles at a locus to phenotype. Importantly, because LD-based studies require recessive mutations to be on the same genetic background and total variant burden analyses are not allele-specific, neither discerns between dominant and recessive mo.....
    Document: Association studies using polymorphisms are LD-based and recent association studies using rare variants compare total variant burden between cases and controls to account for the contributions of multiple alleles at a locus to phenotype. Importantly, because LD-based studies require recessive mutations to be on the same genetic background and total variant burden analyses are not allele-specific, neither discerns between dominant and recessive models of inheritance. 2010). The vcf files were then annotated with minor allele frequencies (MAFs) from EVS (Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA (URL: http://evs.gs.washington.edu/EVS/)), 1000 genomes and ExAC (Monkol Lek et al., 2015) , and with information regarding the effect of each variant using SNPSift/SNPEff (Cingolani et al., 2012) . The databases used for annotation were dbNSFP2.9 (for MAF and CADD score) and GRCh37.75 for protein effect prediction.

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