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How meaningful are heritability estimates of liability?
We will argue that the standard statistical approach to estimating the heritability of a binary trait relies on some additional untestable assumptions which, if violated, can lead to badly biased estimates. The ACE liability threshold model assumes at its heart that each individual has an underlying...
Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
Role of TRAV locus in low caries experience.
We fine mapped the 14q11.2 locus to identify genetic contributors to caries susceptibility. Four hundred seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. An additional 387 DNA samples from u...
A miR-570 binding site polymorphism in the B7-H1 gene is associated with the risk of gastric adenocarcinoma.
We investigated the possible role of miRSNPs at the 3'-untranslated region (3'-UTR) of B7-H1 in the risk of developing gastric cancer. In this association study on 205 gastric adenocarcinoma patients and 393 non-cancer controls, we found that the genotype distribution of a common C>G polymorphism (r...
Genetic variants associated with VLDL, LDL and HDL particle size differ with race/ethnicity.
We aimed to examine whether there were additional genetic differences between racial/ethnic groups on lipoprotein profile. Genotypes were assessed using the Affymetrix 6.0 array in 817 related Caucasian participants of the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN). Association analys...
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
We identified mutations in RTEL1, a helicase with critical telomeric functions, in two families with HH. In the first family, two siblings with HH and very short telomeres inherited a premature stop codon from their mother who has short telomeres. The proband from the second family has HH and inheri...
Familial prostate cancer and HOXB13 founder mutations: geographic and racial/ethnic variations.
Genome-wide two-locus epistasis scans in prostate cancer using two European populations.
We performed a two-stage genome-wide gene-gene interaction scan using a novel statistical approach named "Boolean Operation-based Screening and Testing". In the first stage, we exhaustively evaluated all pairs of SNP-SNP interactions for ~500,000 SNPs in 1,176 PCa cases and 1,101 control subjects fr...
Genomic rearrangements at the FRA2H common fragile site frequently involve non-homologous recombination events across LTR and L1(LINE) repea...
We fine-mapped the location of FRA2H using six-colour fluorescence in situ hybridisation and showed that it is one of the most active cFSs in the human genome. FRA2H encompasses approximately 530 kb of a gene-poor region containing a novel large intergenic non-coding RNA gene (AC097500.2). Using cu...
The impact of Converso Jews on the genomes of modern Latin Americans.
We analyzed DNA collected from two well-established communities in Colorado (33 unrelated individuals) and Ecuador (20 unrelated individuals) with a measurable prevalence of the BRCA1 c.185delAG and the GHR c.E180 mutations, respectively, using Affymetrix Genome-wide Human SNP 6.0 arrays to identify...