Z14.8 Genetic carrier of other disease Z15.01 Genetic susceptibility to malignant neoplasm of breast [Li-hyphenFraumeni syndrome] [covered for Li-hyphenFraumeni syndrome testing other than OncoVue] Z31.430 Encounter of female for testing for genetic disease carrier status for procreative management Z31...
or risk of such a disease, with information about their condition and its effect on their family. This allows patients and their families to make informed reproductive and other medical decisions. The counselor will evaluate medical problems
Inflammatory bowel disease (IBD) is an established risk factor for both asymptomatic carriage of C. difficile and CDI. In a cohort of IBD patients in remission, C. difficile was found more often in the asymptomatic carrier state in the stool of IBD patients when compared to healthy controls ...
(This length estimate is probably downward-biased by imputation error resulting in regression to the mean; a single carrier of both SNPs in HGSVC2 carried an 11-repeat allele.) Closer inspection of these two SNPs showed that rs35310077 (MAF=0.007 in UKB imp_v3) tagged a sub-haplotype of...
and as BOLT-LMM expects imputed genotyping data as input rather than per-gene carrier status, we created dummy genotype files where each variant represents one gene and individuals with a qualifying variant within that gene are coded as heterozygous, regardless of the number of variants that indivi...
Shown are the association betweenrs738409carrier status and risk of five liver outcomes according to BMI categories (<30 versus ≥30 kg m−2), weekly alcohol intake (≤14 versus >14 weekly drinks) and T2D (no versus yes). Points refer to OR (measure of center), error bars repre...
Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci. As structural changes in the heart are a ...
(RNA-seq) data from liver tissue available in a subset of 2,035 individuals from the GHS study, including 8 heterozygous and 1 hemizygous carrier for rs190509934:C. After adjusting for potential confounders (for example, body mass index (BMI), liver disease), we found that rs190509934:C ...
IPD is often preceded by an asymptomatic carrier state (Bogaert et al., 2004). Nasopharyngeal carriage of pneumococci is highest in children aged 1–2 years, and IPD primarily affects children under 5 years and the elderly (Harboe et al., 2012, Sleeman et al., 2001). Carriage of N. me...
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates Article Open access 08 September 2022 A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders Article Open access 19 December 2022 Natural human knockouts...