In this report, we present a comprehensive examination of the histone variant CENP-A in colorectal normal and cancer cells, finding that ectopic CENP-A exists outside centromeres in human cells.
In New York examination of the 1100delC variant in 192 women with a family history of breast cancer, 92 women with a personal history of breast cancer, and 16 male breast cancer patients [ 8] revealed a mutation frequency of 1.0%, which did not differ significantly from the frequency of 0.3% found in volunteers for the New York Cancer Project (P = 0.10).
Examination of the discordant variants suggested several sources for the disagreement.
The phenotype of this line features abnormal skin development and examination of the homozygous variants revealed exonic or splice site mutations in five genes: Ppp1r42 (stopgain), Tpp2 (nonsynonymous SNV), Stat4 (nonsynonymous SNV), Dnah7a, (nonsynonymous SNV), Abca12 (splice-site mutation) (Table 2).
After careful examination of the RNA-seq variant detection process, we proposed to include RNA-specific attributes/annotations for the variant prioritization model in addition to the features included in GATK.
Examination of the autism-specific variants in parents and affected and/or unaffected siblings demonstrated that all variants were inherited.
These tests will require examination of the bridge-helix variants described by Weinzierl [ 7] using biochemical assays that detect individual steps in the nucleotide-addition cycle, or of homologous alterations in other RNA polymerases for which a wider range of in vitro assays specific for individual steps in the cycle is available.
A broader examination of the genetic variation in ANXA11 in the Han Chinese may reveal other variants associated with disease risk.
Re-examination of this variant using anti-phosphotyrosine Western blots showed that it is clearly constitutively active in the absence of ligand.
In the light of the potential role of KLF11 in insulin action, we present a detailed re-examination of the KLF11 variants and test the possible association with Type 2 diabetes in 1818 Japanese participants.
Further examination of the region surrounding this variant revealed a low relative read coverage and several succeeding homozygous variants, stretching from FANCA exon 26 to 37 (NM_000135.2), suggesting a deletion at this locus.
