My daughter’s health was a mystery. The answer was on the other side of the world | Well actually
Right after my daughter, Maggie, was born in 2012, she held her hands clasped together against her chest.…
Complex genetic variation in nearly complete human genomes
Liao, W.-W. et al. A draft human pangenome reference. Nature 617, 312–324 (2023). Article ADS CAS PubMed PubMed…
Hibernator ‘superpowers’ may lie hidden in human DNA – @theU
Reposted from U of U Health. Animals that hibernate are incredibly resilient. They can spend months without food…
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Enrollment rates Between 28 September 2023 and 10 June 2024 (~8.5 months), a total of 2,125 newborns were enrolled.…
Large-scale genome-wide analyses of stuttering
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Article …
Methods and applications of in vivo CRISPR screening
Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015). Article PubMed Google…
Whole-exome sequencing analysis identifies risk genes for schizophrenia
Lally, J. & MacCabe, J. H. Antipsychotic medication in schizophrenia: a review. Br. Med. Bull. 114, 169–179 (2015).…
World Athletics’ mandatory genetic test for women athletes is misguided. I should know – I discovered the relevant gene in 1990
World Athletics president Sebastian Coe recently announced a new rule for women athletes, requiring mandatory genetic tests to…
Mutational landscape of triple-negative breast cancer in African American women
Patient population Paired tumor and normal samples from 513 self-identified AA women with TNBC were interrogated by WES.…
Scientists find link between genes and ME/chronic fatigue syndrome | ME / Chronic fatigue syndrome
Scientists have found the first robust evidence that people’s genes affect their chances of developing myalgic encephalomyelitis or…
The Family Fallout of DNA Surprises
Sigmund Freud, in “Family Romances,” writes that all of us, once we realize as children the uncertainty of…
Systema: a framework for evaluating genetic perturbation response prediction beyond systematic variation
Nonparametric baselines We design two nonparametric baselines that we refer to as perturbed mean and matching mean. Perturbed…