Early diagnosis of premature ovarian insufficiency by GeneFeminaTM helped in achieving fertility, by taking early decisions on treatment. Cryopreserving embryos helped in avoiding multiple, not so pleasant, induction cycles.

A study published in the American Journal of Human Genetics investigated the prevalence and impact of nonsense single nucleotide polymorphisms (SNPs) in the human genome. These variants introduce premature stop codons, potentially leading to truncated, nonfunctional proteins. By genotyping 805 nonsense SNPs across 1,151 individuals from 56 populations, researchers identified 169 genes with variable nonsense SNPs, with 99 genes showing inactivation in at least one individual. On average, individuals differed by 24 genes due to these SNPs alone. While most nonsense SNPs are slightly disadvantageous over evolutionary timescales, some may be advantageous, indicated by high population differentiation and frequency.