When is a variant too common to be pathogenic? >5% is a hard cut-off according to the ACMG variant interpretation guidelines, but a frequency “greater then expected for the disorder” is also strong evidence for a benign interpretation, and a rate of 0,01% is suggested by this recent paper, provided that known founder mutations are taken into account.
This paper reports on core promoter strength across the human genome.
Most association work between genotype and phenotype is done on a variant by variant level. This paper reports on a haplotype based correlation between essential hypertension and a particular haplotype occurring with a particular haplotype.
DNA methylation patterns from single cells is here.
A study that reiterates the importance of understanding the dosage pathogenicity of genes in interpreting the consequences of copy number variants.
Genomic medicine is constantly evolving. Who has the responsibility to ensure patients who have had genetic testing are kept up to date? A UK group recommends that re-contacting preferences be built into the initial consult.
The genetic underpinnings of the third largest cause of death in the US, ,Chronic obstructive pulmonary disease (COPD), are being uncovered.
When it comes to BRCA testing, a large majority of women who are at risk are not being recommended testing by their doctors.
How to separate the effects of genotype and phenotype? Subjecting those with identical genotype (identical twins) to very different environments (one in space, one not) can yield interesting results, and not just for those planning colonialization of Mars. The telomeres of the DNA of an identical twin sent to the International Space Station ended up longer than this stay at home twin.
Tom Price is the new leader of the Department of Health and Human Services. An advocate for the repeal of Obamacare, and an opponent of Medicare, will be sure to shake things up.