Assessment of lipid biomarker distribution in dried blood spots for newborn screening
1. In a retrospective cohort study, the distribution of low density lipoprotein cholesterol (LDL-C) and apolipoprotein B (ApoB) levels obtained ...
Tag: genetics
Genomic screening for hereditary conditions is cost-effective in young adults
1. In this decision analysis model, population screening for three common hereditary conditions was cost-effective in adults younger than 40. ...
POT1-mediated long telomere syndrome is associated with familial clonal hematopoiesis
1. In this retrospective study, carriers with mutations in the gene encoding the protection of telomeres 1 protein (POT1) were ...
Genome-wide analysis aids in diagnosing rare pediatric diseases
1. In this cohort study, a combination of exome sequencing, microarray analysis, and phenotypic data improved the detection of rare ...
Synergistic interaction between risk burden and genetics for atrial fibrillation development
1. In a large prospective study, risk burden and genetic predisposition acted synergistically to significantly increase the risk of developing ...
Deep intronic FGF14 repeat expansion associated with late-onset cerebella ataxia
1. A dominant deep-intron GAA repeat expansion in the FGF14 gene was found among French Canadian patients with late-onset cerebellar ...
![Reduced neuronal BRCA1 associated with decreased DNA repair in Alzheimer’s disease [PreClinical]](https://www.2minutemedicine.com/wp-content/uploads/2015/12/DNA_Furchen_edited-350x250.png)
Differences in cancer implications for clinical care among CHEK2 variants
1. Some CHEK2 alleles were shown to have a high-risk association of breast cancer compared to other alleles that were ...
Tea consumption is associated with decreased risk of mortality
1. This prospective cohort study found that consuming two or more cups of tea daily was associated with moderately reduced ...
![Maternal cell-free DNA sequencing superior to standard aneuploidy screening [CARE Study]](https://www.2minutemedicine.com/wp-content/uploads/2014/02/47-karyotype-350x250.jpg)
Germline mutations in CIDEB confer protection from liver disease
1. Rare mutations in CIDEB are associated with a decreased risk of developing liver cirrhosis. 2. Further, rare mutations in ...
ACKR1 variant increases risk of azathioprine-related hematopoietic toxicity
1. Patients with the ACKR1 variant (CC genotype) had an elevated risk of azathioprine discontinuation attributed to hematopoietic toxicity. 2. ...
