





Semen analysis of the male partner showed low sperm motility and poor sperm morphology. Multiple IUI procedures did not help. Couple were contemplating whether to go for ICSI, and if yes, with self or donor sperm. GeneAndroTManalysis not only identified the root cause of male infertility but also helped them in decision making.

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.