We analyzed the clinical and genetic data of pediatric patients diagnosed with nucleoporin nephropathy at a southern Chinese pediatric nephrology center, and reviewed global cases reported up until ...
Université de Strasbourg and partners report that adding structural variants and small insertion–deletion mutations to single-nucleotide polymorphism analyses raised trait heritability estimates by 14 ...
Although rare diseases individually affect a small number of people in the population, together they present a significant burden on global public health, affecting millions worldwide 1. The diagnosis ...
In this interview conducted at Pittcon 2023 in Philadelphia, Pennsylvania, we spoke to this year’s recipient of the Pittsburgh Analytical Chemistry Award, Neil Kelleher. My name is Neil Kelleher, and ...
Humans have approximately 20,000 human protein-coding genes, and the proteins they express span a concentration range of ~12 logs. Yet only 0.1% of proteins contribute to 99% of the total plasma ...
Northwestern University biophysicists have developed a new computational tool for identifying gene combinations underlying complex illnesses such as diabetes, cancer, and asthma. Unlike single-gene ...
Compared with usual care, genotype-guided prescribing of selective serotonin reuptake inhibitors (SSRI) in children and adults with depression didn’t improve symptoms at 3 months but was associated ...
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