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待翻译:Show HN: Gene Inspector Pro – I built a tool for exploring your own genome

AI 服务暂时不可用,以下为来源摘要,待恢复后补全翻译:Make sense of your DNA Upload your DNA file and explore panels, genes, variants, predictors, and source evidence in one place. See What's in My DNA Explore Demo Genome Upload RAW DNA files from SNP array raw data The ra…

来源Hacker News AI作者: sergey-a

AI 服务暂时不可用,以下为来源正文,待恢复后补全翻译。

Make sense of your DNA Upload your DNA file and explore panels, genes, variants, predictors, and source evidence in one place. See What's in My DNA Explore Demo Genome Upload RAW DNA files from SNP array raw data The raw DNA file you download from an ancestry or consumer DNA service. Examples 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA Usually a .txt file, sometimes inside a .zip file, Whole genome sequencing The most complete DNA download, covering your whole genome. Examples Sequencing.com, Dante Labs, DNA Complete, Nebula Genomics, or tellmeGen Look for a variant file ending in .vcf or .vcf.gz, or Whole exome sequencing A DNA download that focuses on the gene regions most often checked for health-related changes. Examples Usually provided by a clinic, hospital, or sequencing lab Look for a variant file ending in .vcf or .vcf.gz. Review ClinVar highlights, 1 of 3 Vitamins Synthesis, transport, and use. 14 panels Vitamin A Thiamine (B1) Riboflavin (B2) NAD (B3) Pantothenic acid (B5) Pyridoxal Phosphate (B6) Biotin (B7) Folate (B9) Cobalamin (B12) Vitamin C Vitamin D Vitamin E Vitamin K Vitamin Q (Queuosine) Minerals Metabolism, transport, and balance. 12 panels Iron (Fe) Copper (Cu) Selenoproteins Molybdenum Sulfur (S) Zinc (Zn) Magnesium (Mg) Iodine (I) Manganese (Mn) Calcium (Ca) Phosphate (P) Electrolytes (Na/K/Cl) Hormones Signaling, conversion, and clearance. 22 panels Thyroid Estrogen Androgens Progesterone Cortisol Aldosterone Catecholamines Melatonin Insulin signaling GH / IGF Axis Prolactin Gonadotropins Oxytocin signaling Calciotropic Hormones Gut Hormones Adipokines / Appetite Cardiorenal Peptides Hematopoietic Hormones Placental Hormones Relaxin / INSL Peptides Melanocortin / Orexin Endocrine FGFs Energy & pathways Core cellular energy pathways. 8 panels Mitochondrial DNA Krebs cycle (TCA) Fatty Acids Oxidation Ketones Gluconeogenesis Branched-Chain Amino Acids Pentose Phosphate Pathway Urea cycle Supporting pathways Detoxification, defense, and signaling. 18 panels Glutathione Heme Coenzyme Q10 Creatine Glycine Histamine PLP-dependent enzymes Circadian rhythm Endocannabinoid System Apolipoproteins PPARs NRF2 PI3K-Akt-GSK3b Autophagy Transporters Immune system Oxalates AMPD1 Network Genetic disorder collections Rare, metabolic, neurological, and endocrine topics. 20 panels Lysosomal Storage Disorders Neuromuscular Disorders Mitochondrial disorders Hyperammonemia Glycogen storage disease Hyperinsulinism Acidurias Porphyrias NBIA Maple Syrup Urine Disease Mucopolysaccharidosis Bleeding Disorders Ehlers-Danlos syndrome MCAS Polycystic Ovary Syndrome Kidney stone disease (monogenic) Hirsutism Seizures ME/CFS Other Rare Diseases Create custom panels from genes and variants related to a condition or research question. Medication response Your genes affect response to medication Gene Inspector matches your variants with medication-response data and shows the evidence and known limitations in one report. 28,139 medication-response notes 1,165 medications covered 8,431 research references Example TNFRSF11A rs1805034 CT frequency 0.55 Toxicity This genotype has been linked to a higher risk of urticaria or angioedema with several pain medicines. Other genetic and clinical factors may also matter. 1 of 4 Predictor comparison Check the Evidence Behind It Compare predictor signals, clinical records, research summaries, and source links before drawing conclusions. Organized findings See Your DNA Findings by Health Topic Your findings are grouped into familiar health topics, with each gene and variant available when you want more detail. Gene-level review See Every Variant in Context Review all variants detected in one gene, organized by potential impact with frequency and consequence shown together. See the evidence view with sample data. Explore Demo Genome 23,605 genes in the database Browse gene and variant context in one place. 102 Prebuilt panels Start with a health topic or build your own. 8 Evidence signals Compare predictors and clinical records. For Individuals Starting from $15/month One genome included, upgrade anytime. Use prebuilt panels, predictors, and notes. Cancel anytime. See What's in My DNA For Health Practitioners Starting from $99/month Work with up to 15 active genomes. Unlimited archived genomes. Cancel anytime. Create Practitioner Account Not ready to choose? Start with the demo. Explore Demo Genome Responsible use For research and education only Gene Inspector helps you explore genetic information. It does not provide medical care. Read the full medical disclaimer Gene Inspector Pro provides non-clinical information for research, education, and general wellness review. The service is not reviewed, cleared, or approved by the FDA, and it does not diagnose, treat, prevent, mitigate, or cure any disease, condition, or disorder. Consultations or third-party professionals connected with Gene Inspector Pro do not provide medical opinions, clinical assessments, healthcare services, or any regulated professional care through the service. No physician-patient or licensed provider-patient relationship is created. Information from the service is not a substitute for professional medical advice, diagnosis, or treatment. Consult a licensed physician or qualified healthcare provider before making health-related decisions, especially if you have or suspect a medical condition. Please use this information as part of your own research and in consultation with your healthcare provider.