whole genome sequencing

  1. Nightsong

    Genetic Landscape and Mitochondrial Metabolic Dysregulation in Patients Suffering From Severe Long COVID, 2025, Hansen et al

    Abstract: Long COVID represents a significant global health challenge with an unclear etiology. Alongside accumulating evidence of mitochondrial dysfunction in patients with acute SARS-CoV-2 infection, a symptomatic overlap exists between long COVID and mitochondrial disorders. However, the...
  2. cassava7

    The sequences of 150,119 genomes in the UK Biobank, Halldorsson et al, 2022

    Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome...
  3. J

    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study, 2021, Schon et al.

    Posts moved from this thread: Trial of Long Covid treatment - AXA1125 from Axcella Therapeutics, 2021 ________________ Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study Abstract Objective To determine whether whole genome sequencing...
  4. Hutan

    Whole genome sequencing uncovers a misclassified case of glycogen storage disease type 13 previously diagnosed as ME/CFS, 2021, Brown, Younger et al

    Donna Brown, Camille Birch, Jarred Younger, Elizabeth Worthey UAB Medicine Link to the abstract Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) also referred to as Systemic Exertion Intolerance Disease (SEID) or Chronic Fatigue Immune Dysfunction Syndrome, is a disabling and...
  5. daftasabrush

    Whole Genomics Sequencing (WGS) - offers and discounts

    I thought a thread for any special offers would be useful. Currently Nebula have free worldwide delivery, and WGS x30 for $299 (normal price $1000), which is a bit over £200 since the exchange rate is good at the moment. There is a x100 offer on too, plus an upgrade from x30 to x100 for...
  6. Lisa108

    Dante Labs - genetic testing

    From their website: time zone converter here
  7. H

    Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis (2018)

    I thought some others might also find this interesting. I have EoE and my EoE and stomach problems flare from exertion and it's becoming pretty obvious it's playing quite a big role in my disease. I've also suspected that I have severe mitochondrial dysfunction in these organs but unable to...
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