Publications by authors named "L Francioli"

Article Synopsis
  • The study investigates the link between self-reported workplace bullying and various hospital-diagnosed mental disorders as well as the use of psychotropic medications.
  • Analyzing data from over 75,000 participants, researchers found that workplace bullying significantly increased the risk of mental disorders, particularly mood and stress-related disorders, especially among women.
  • The findings suggest that individuals experiencing workplace bullying are more likely to be prescribed psychotropic drugs, highlighting the serious mental health implications of bullying in the workplace.
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Article Synopsis
  • - The study focuses on understanding how purifying natural selection affects variations in non-coding regions of the human genome, alongside existing knowledge of protein-coding genes responsible for human disorders.
  • - Researchers created a comprehensive constraint map, named Gnocchi, using data from 76,156 human genomes to analyze genomic variations, with a refined model that factors in local sequences and features to identify areas with less variation.
  • - Findings indicate that while protein-coding regions show stronger constraint, certain non-coding regions related to regulatory elements are also important, suggesting that analyzing non-coding DNA can help uncover previously unidentified constrained genes linked to diseases.
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Recessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal variants in a gene, accurate diagnosis requires determining that these variants occur on different copies of the chromosome (that is, are in trans) rather than on the same copy (that is, in cis). However, current approaches for determining phase, beyond parental testing, are limited in clinical settings.

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Recessive diseases arise when both the maternal and the paternal copies of a gene are impacted by a damaging genetic variant in the affected individual. When a patient carries two different potentially causal variants in a gene for a given disorder, accurate diagnosis requires determining that these two variants occur on different copies of the chromosome (i.e.

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