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index.html
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| 19 |
</html>
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| 1 |
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<!DOCTYPE html>
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<html lang="en">
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<head>
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<meta charset="UTF-8">
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<meta name="viewport" content="width=device-width, initial-scale=1.0">
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<title>MVA Syndrome Multi-Dimensional Genomic Studio</title>
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<link rel="stylesheet" href="style.css">
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| 8 |
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<link rel="preconnect" href="https://fonts.googleapis.com">
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| 9 |
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<link rel="preconnect" href="https://fonts.gstatic.com" crossorigin>
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| 10 |
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<link href="https://fonts.googleapis.com/css2?family=JetBrains+Mono:wght@400;500;600;700&family=Plus+Jakarta+Sans:wght@400;500;600;700;800&display=swap" rel="stylesheet">
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</head>
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<body>
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<div class="app-container">
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<!-- Top Header -->
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<header class="studio-header">
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<div class="header-left">
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<div class="logo-badge">
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| 18 |
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<div class="pulse-dot"></div>
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<span class="logo-title">MVA SYNDROME</span>
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| 20 |
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<span class="logo-sub">5D GENOMIC STUDIO</span>
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</div>
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| 22 |
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<div class="patient-badge">
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| 23 |
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<span class="patient-label">PROBAND:</span>
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| 24 |
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<span class="patient-id font-mono">EX2312012 (HGWCNDSX7)</span>
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| 25 |
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</div>
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| 26 |
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</div>
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| 27 |
+
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| 28 |
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<div class="header-stats">
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| 29 |
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<div class="stat-pill" title="Total Whole Genome Variants">
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| 30 |
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<span class="stat-label">TOTAL WGS VARIANTS</span>
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| 31 |
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<span class="stat-val">5,012,204</span>
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| 32 |
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</div>
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| 33 |
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<div class="stat-pill" title="Candidate Variants in MVA / Cancer Panels">
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| 34 |
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<span class="stat-label">CANDIDATE VARIANTS</span>
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| 35 |
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<span id="statCandidateCount" class="stat-val font-cyan">1,576</span>
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| 36 |
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</div>
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| 37 |
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<div class="stat-pill highlight-gold" title="Putative Mosaic Somatic Mutations (5%-38% VAF)">
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| 38 |
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<span class="stat-label">MOSAIC CANDIDATES</span>
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| 39 |
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<span id="statMosaicCount" class="stat-val">84</span>
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| 40 |
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</div>
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| 41 |
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<div class="stat-pill" title="Mean WGS Sequencing Coverage">
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| 42 |
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<span class="stat-label">MEAN COVERAGE</span>
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| 43 |
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<span class="stat-val">36.2Γ (NovaSeq)</span>
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| 44 |
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</div>
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| 45 |
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</div>
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| 46 |
+
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| 47 |
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<div class="header-right">
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| 48 |
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<div class="connection-badge" title="Hugging Face Dataset Connection Status">
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| 49 |
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<span class="badge-dot"></span>
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| 50 |
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<span class="badge-text">PRIVATE DATASET LINKED</span>
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| 51 |
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</div>
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| 52 |
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<button id="btnShortcuts" class="icon-btn">β¨ Shortcuts</button>
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| 53 |
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</div>
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| 54 |
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</header>
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| 55 |
+
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| 56 |
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<!-- Navigation Tabs -->
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| 57 |
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<nav class="studio-nav">
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| 58 |
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<button class="nav-tab active" data-tab="tab-clinical">
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| 59 |
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<span class="tab-icon">π₯</span> Clinical Phenotype & HPO
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| 60 |
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</button>
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| 61 |
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<button class="nav-tab" data-tab="tab-variants">
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| 62 |
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<span class="tab-icon">π§¬</span> Chromosome & Variant Navigator
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| 63 |
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</button>
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| 64 |
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<button class="nav-tab" data-tab="tab-mosaic">
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| 65 |
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<span class="tab-icon">π¬</span> Mosaicism & VAF Spectrum
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| 66 |
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</button>
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| 67 |
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<button class="nav-tab" data-tab="tab-wgs">
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| 68 |
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<span class="tab-icon">π</span> WGS Sequencing & Flowcells
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| 69 |
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</button>
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| 70 |
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<button class="nav-tab" data-tab="tab-pathway">
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| 71 |
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<span class="tab-icon">βοΈ</span> Mitotic Checkpoint Pathway
|
| 72 |
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</button>
|
| 73 |
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</nav>
|
| 74 |
+
|
| 75 |
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<!-- Tab 1: Clinical Phenotype & HPO Profile -->
|
| 76 |
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<section id="tab-clinical" class="tab-content active">
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| 77 |
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<div class="clinical-grid">
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| 78 |
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<!-- Left Column: Patient Case Overview -->
|
| 79 |
+
<div class="card card-overview">
|
| 80 |
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<div class="card-header">
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| 81 |
+
<h3>π Proband Case Summary & Diagnostic Context</h3>
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| 82 |
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<span class="badge-rare">Rare Disease: MVA Syndrome</span>
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| 83 |
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</div>
|
| 84 |
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<div class="card-body">
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| 85 |
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<div class="alert-box">
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| 86 |
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<strong>Clinical Presentation:</strong> Pediatric patient presenting with a coherent phenotypic cluster of embryonal malignancy (rhabdomyosarcoma), congenital nephrocalcinosis, severe intrauterine growth restriction (IUGR), microcephaly/short stature, failure to thrive, and parental history of recurrent miscarriages.
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| 87 |
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</div>
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| 88 |
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| 89 |
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<div class="clinical-meta-grid">
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| 90 |
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<div class="meta-item">
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| 91 |
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<span class="meta-label">Primary Oncological Event:</span>
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| 92 |
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<span class="meta-val font-red">Rhabdomyosarcoma (Soft Tissue Tumour)</span>
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| 93 |
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</div>
|
| 94 |
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<div class="meta-item">
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| 95 |
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<span class="meta-label">Renal Anomalies:</span>
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| 96 |
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<span class="meta-val font-gold">Congenital Nephrocalcinosis (Since Birth)</span>
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| 97 |
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</div>
|
| 98 |
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<div class="meta-item">
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| 99 |
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<span class="meta-label">Gestational Age at Birth:</span>
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| 100 |
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<span class="meta-val">32 Weeks (Premature)</span>
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| 101 |
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</div>
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| 102 |
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<div class="meta-item">
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| 103 |
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<span class="meta-label">Birth Weight:</span>
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| 104 |
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<span class="meta-val">~1.0 kg (Severe IUGR / Small for Gestational Age)</span>
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| 105 |
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</div>
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| 106 |
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<div class="meta-item">
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| 107 |
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<span class="meta-label">Family Reproductive History:</span>
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| 108 |
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<span class="meta-val font-cyan">Parental Recurrent Spontaneous Abortions</span>
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| 109 |
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</div>
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| 110 |
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<div class="meta-item">
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| 111 |
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<span class="meta-label">Diagnostic Trigger:</span>
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| 112 |
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<span class="meta-val">Urgent Whole Genome Sequencing (WGS)</span>
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| 113 |
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</div>
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| 114 |
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</div>
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| 115 |
+
|
| 116 |
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<div class="insight-box">
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| 117 |
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<h4>π‘ Syndromic Diagnostic Key:</h4>
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| 118 |
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<p>In chromosomal instability syndromes such as Mosaic Variegated Aneuploidy (MVA), no single finding is isolated. The hallmark is the triad of <strong>growth restriction + pediatric cancer predisposition + chromosome segregation/mitotic checkpoint defects</strong>. Parental recurrent pregnancy loss further points to segregation/aneuploidy vulnerability.</p>
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| 119 |
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</div>
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| 120 |
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</div>
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| 121 |
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</div>
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| 122 |
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| 123 |
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<!-- Right Column: HPO Term Breakdown -->
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| 124 |
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<div class="card card-hpo">
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| 125 |
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<div class="card-header">
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| 126 |
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<h3>π·οΈ Human Phenotype Ontology (HPO) Profile</h3>
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| 127 |
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<span id="hpoCountBadge" class="badge-count">8 Phenotypes</span>
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| 128 |
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</div>
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| 129 |
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<div class="card-body">
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| 130 |
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<div id="hpoList" class="hpo-list">
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| 131 |
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<!-- Rendered via JS -->
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| 132 |
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</div>
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| 133 |
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</div>
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| 134 |
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</div>
|
| 135 |
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</div>
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| 136 |
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</section>
|
| 137 |
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|
| 138 |
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<!-- Tab 2: Chromosome & Variant Navigator -->
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| 139 |
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<section id="tab-variants" class="tab-content">
|
| 140 |
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<div class="variants-layout">
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| 141 |
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<!-- Top Toolbar: Gene Panels & Filters -->
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| 142 |
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<div class="variant-toolbar">
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| 143 |
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<div class="filter-group">
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| 144 |
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<label for="geneFilter" class="filter-label">GENE PANEL:</label>
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| 145 |
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<select id="geneFilter" class="styled-select">
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| 146 |
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<option value="ALL">All Candidate Genes (16 Panels)</option>
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| 147 |
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<option value="BUB1B">BUB1B β MVA Type 1 (chr15)</option>
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| 148 |
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<option value="CEP57">CEP57 β MVA Type 2 (chr11)</option>
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| 149 |
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<option value="TRIP13">TRIP13 β MVA Type 3 (chr5)</option>
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| 150 |
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<option value="CEP192">CEP192 β MVA Type 4 (chr18)</option>
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| 151 |
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<option value="MAD1L1">MAD1L1 β MVA Susceptibility (chr7)</option>
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| 152 |
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<option value="MAD2L1">MAD2L1 β Checkpoint Core (chr4)</option>
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| 153 |
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<option value="BUB1">BUB1 β Kinetochore Kinase (chr2)</option>
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| 154 |
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<option value="BUB3">BUB3 β SAC Scaffold (chr10)</option>
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| 155 |
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<option value="SMC5">SMC5 β Chromosome Repair (chr9)</option>
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| 156 |
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<option value="CENPE">CENPE β Kinetochore Motor (chr4)</option>
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| 157 |
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<option value="CENPF">CENPF β Centromere Protein F (chr1)</option>
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| 158 |
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<option value="PLK1">PLK1 β Polo Like Kinase (chr16)</option>
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| 159 |
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<option value="AURKA">AURKA β Aurora Kinase A (chr20)</option>
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| 160 |
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<option value="TP53">TP53 β Li-Fraumeni / Sarcoma (chr17)</option>
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| 161 |
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<option value="WT1">WT1 β Wilms / Nephrocalcinosis (chr11)</option>
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| 162 |
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<option value="DICER1">DICER1 β Rhabdomyosarcoma (chr14)</option>
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| 163 |
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</select>
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| 164 |
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</div>
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| 165 |
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|
| 166 |
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<div class="filter-group">
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| 167 |
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<label for="typeFilter" class="filter-label">TYPE:</label>
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| 168 |
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<select id="typeFilter" class="styled-select-sm">
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| 169 |
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<option value="ALL">All Types</option>
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| 170 |
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<option value="SNV">SNV (Single Nucleotide)</option>
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| 171 |
+
<option value="Insertion">Insertion</option>
|
| 172 |
+
<option value="Deletion">Deletion</option>
|
| 173 |
+
</select>
|
| 174 |
+
</div>
|
| 175 |
+
|
| 176 |
+
<div class="filter-group">
|
| 177 |
+
<label for="mosaicFilter" class="filter-label">ZYGOSITY / MOSAICISM:</label>
|
| 178 |
+
<select id="mosaicFilter" class="styled-select-sm">
|
| 179 |
+
<option value="ALL">All Classifications</option>
|
| 180 |
+
<option value="Mosaic Somatic Candidate">Mosaic Somatic Candidates (5%-38% VAF)</option>
|
| 181 |
+
<option value="Germline Heterozygous">Germline Heterozygous (40%-60% VAF)</option>
|
| 182 |
+
<option value="Germline Homozygous">Germline Homozygous (85%-100% VAF)</option>
|
| 183 |
+
</select>
|
| 184 |
+
</div>
|
| 185 |
+
|
| 186 |
+
<div class="filter-group search-group">
|
| 187 |
+
<input type="text" id="variantSearch" placeholder="Search by position, dbSNP rsID, or allele..." class="search-input">
|
| 188 |
+
</div>
|
| 189 |
+
|
| 190 |
+
<div class="filter-stats">
|
| 191 |
+
<span>Showing <strong id="filteredCount">0</strong> / <span id="totalCandidateCount">0</span> variants</span>
|
| 192 |
+
</div>
|
| 193 |
+
</div>
|
| 194 |
+
|
| 195 |
+
<!-- Chromosome Ideogram Selector -->
|
| 196 |
+
<div class="chromosome-bar-wrapper">
|
| 197 |
+
<div class="chr-bar-header">
|
| 198 |
+
<span>GENOME-WIDE CHROMOSOME DENSITY (Click chromosome to filter):</span>
|
| 199 |
+
<button id="btnResetChr" class="mini-btn">Reset All Chromosomes</button>
|
| 200 |
+
</div>
|
| 201 |
+
<div id="chromosomeKaryotype" class="chromosome-karyotype">
|
| 202 |
+
<!-- Rendered via JS -->
|
| 203 |
+
</div>
|
| 204 |
+
</div>
|
| 205 |
+
|
| 206 |
+
<!-- Variants Table -->
|
| 207 |
+
<div class="table-card">
|
| 208 |
+
<div class="table-scroll">
|
| 209 |
+
<table class="variant-table">
|
| 210 |
+
<thead>
|
| 211 |
+
<tr>
|
| 212 |
+
<th>Gene</th>
|
| 213 |
+
<th>Chromosome:Position</th>
|
| 214 |
+
<th>Ref β Alt</th>
|
| 215 |
+
<th>Type</th>
|
| 216 |
+
<th>Genotype (GT)</th>
|
| 217 |
+
<th>Allelic Depth (AD)</th>
|
| 218 |
+
<th>Total DP</th>
|
| 219 |
+
<th>VAF (Allele Fraction)</th>
|
| 220 |
+
<th>Classification</th>
|
| 221 |
+
<th>Filter</th>
|
| 222 |
+
<th>Action</th>
|
| 223 |
+
</tr>
|
| 224 |
+
</thead>
|
| 225 |
+
<tbody id="variantTableBody">
|
| 226 |
+
<!-- Rendered via JS -->
|
| 227 |
+
</tbody>
|
| 228 |
+
</table>
|
| 229 |
+
</div>
|
| 230 |
+
</div>
|
| 231 |
+
</div>
|
| 232 |
+
</section>
|
| 233 |
+
|
| 234 |
+
<!-- Tab 3: Mosaicism & VAF Spectrum -->
|
| 235 |
+
<section id="tab-mosaic" class="tab-content">
|
| 236 |
+
<div class="mosaic-grid">
|
| 237 |
+
<div class="card">
|
| 238 |
+
<div class="card-header">
|
| 239 |
+
<h3>π¬ Variant Allele Frequency (VAF) Spectrum & Mosaicism Analysis</h3>
|
| 240 |
+
<span class="badge-cyan">Somatic vs Germline Resolution</span>
|
| 241 |
+
</div>
|
| 242 |
+
<div class="card-body">
|
| 243 |
+
<p class="section-desc">
|
| 244 |
+
In Mosaic Variegated Aneuploidy, post-zygotic somatic mutations and mitotic nondisjunction events exhibit non-Mendelian allele frequencies. Variants with <strong>$VAF \in [0.05, 0.38]$</strong> represent high-confidence mosaic somatic candidates.
|
| 245 |
+
</p>
|
| 246 |
+
|
| 247 |
+
<div class="vaf-distribution-chart">
|
| 248 |
+
<div class="vaf-bracket bracket-mosaic">
|
| 249 |
+
<div class="bracket-header">
|
| 250 |
+
<span>MOSAIC SOMATIC SPECTRUM</span>
|
| 251 |
+
<strong>5% β 38% VAF</strong>
|
| 252 |
+
</div>
|
| 253 |
+
<div class="bracket-body" id="mosaicListSummary">
|
| 254 |
+
<!-- JS generated -->
|
| 255 |
+
</div>
|
| 256 |
+
</div>
|
| 257 |
+
|
| 258 |
+
<div class="vaf-bracket bracket-het">
|
| 259 |
+
<div class="bracket-header">
|
| 260 |
+
<span>GERMLINE HETEROZYGOUS</span>
|
| 261 |
+
<strong>40% β 60% VAF</strong>
|
| 262 |
+
</div>
|
| 263 |
+
<div class="bracket-body" id="hetListSummary">
|
| 264 |
+
<!-- JS generated -->
|
| 265 |
+
</div>
|
| 266 |
+
</div>
|
| 267 |
+
|
| 268 |
+
<div class="vaf-bracket bracket-hom">
|
| 269 |
+
<div class="bracket-header">
|
| 270 |
+
<span>GERMLINE HOMOZYGOUS</span>
|
| 271 |
+
<strong>85% β 100% VAF</strong>
|
| 272 |
+
</div>
|
| 273 |
+
<div class="bracket-body" id="homListSummary">
|
| 274 |
+
<!-- JS generated -->
|
| 275 |
+
</div>
|
| 276 |
+
</div>
|
| 277 |
+
</div>
|
| 278 |
+
</div>
|
| 279 |
+
</div>
|
| 280 |
+
|
| 281 |
+
<div class="card">
|
| 282 |
+
<div class="card-header">
|
| 283 |
+
<h3>β Top Mosaic Somatic Candidate Loci</h3>
|
| 284 |
+
<span class="badge-gold">Prioritized SAC & Centrosome Mutants</span>
|
| 285 |
+
</div>
|
| 286 |
+
<div class="card-body">
|
| 287 |
+
<div id="topMosaicTable" class="top-mosaic-container">
|
| 288 |
+
<!-- Rendered via JS -->
|
| 289 |
+
</div>
|
| 290 |
+
</div>
|
| 291 |
+
</div>
|
| 292 |
+
</div>
|
| 293 |
+
</section>
|
| 294 |
+
|
| 295 |
+
<!-- Tab 4: WGS Sequencing & Flowcells -->
|
| 296 |
+
<section id="tab-wgs" class="tab-content">
|
| 297 |
+
<div class="wgs-grid">
|
| 298 |
+
<div class="card">
|
| 299 |
+
<div class="card-header">
|
| 300 |
+
<h3>π Illumina NovaSeq 6000 Flowcell Metrics</h3>
|
| 301 |
+
<span class="badge-cyan">Flowcell ID: HGWCNDSX7</span>
|
| 302 |
+
</div>
|
| 303 |
+
<div class="card-body">
|
| 304 |
+
<div class="stats-overview-row">
|
| 305 |
+
<div class="overview-box">
|
| 306 |
+
<span class="box-label">Total Sequencing Data</span>
|
| 307 |
+
<span class="box-val font-cyan">78.86 GB</span>
|
| 308 |
+
</div>
|
| 309 |
+
<div class="overview-box">
|
| 310 |
+
<span class="box-label">Total Paired Reads</span>
|
| 311 |
+
<span class="box-val">805.8 Million</span>
|
| 312 |
+
</div>
|
| 313 |
+
<div class="overview-box">
|
| 314 |
+
<span class="box-label">Mean Genome Coverage</span>
|
| 315 |
+
<span class="box-val font-green">36.2Γ</span>
|
| 316 |
+
</div>
|
| 317 |
+
<div class="overview-box">
|
| 318 |
+
<span class="box-label">Bases β₯ Q30</span>
|
| 319 |
+
<span class="box-val font-gold">93.45%</span>
|
| 320 |
+
</div>
|
| 321 |
+
<div class="overview-box">
|
| 322 |
+
<span class="box-label">Mean Insert Size</span>
|
| 323 |
+
<span class="box-val">380 bp</span>
|
| 324 |
+
</div>
|
| 325 |
+
<div class="overview-box">
|
| 326 |
+
<span class="box-label">Duplication Rate</span>
|
| 327 |
+
<span class="box-val">8.4%</span>
|
| 328 |
+
</div>
|
| 329 |
+
</div>
|
| 330 |
+
|
| 331 |
+
<h4 class="subhead">Lane-by-Lane Sequencing Breakdown (4 Flowcell Lanes)</h4>
|
| 332 |
+
<div class="lanes-table-wrapper">
|
| 333 |
+
<table class="lane-table">
|
| 334 |
+
<thead>
|
| 335 |
+
<tr>
|
| 336 |
+
<th>Lane</th>
|
| 337 |
+
<th>Read 1 (R1) FASTQ</th>
|
| 338 |
+
<th>R1 Size</th>
|
| 339 |
+
<th>Read 2 (R2) FASTQ</th>
|
| 340 |
+
<th>R2 Size</th>
|
| 341 |
+
<th>Total Reads</th>
|
| 342 |
+
<th>Q30 %</th>
|
| 343 |
+
<th>Est. Coverage</th>
|
| 344 |
+
</tr>
|
| 345 |
+
</thead>
|
| 346 |
+
<tbody id="laneTableBody">
|
| 347 |
+
<!-- Rendered via JS -->
|
| 348 |
+
</tbody>
|
| 349 |
+
</table>
|
| 350 |
+
</div>
|
| 351 |
+
</div>
|
| 352 |
+
</div>
|
| 353 |
+
</div>
|
| 354 |
+
</section>
|
| 355 |
+
|
| 356 |
+
<!-- Tab 5: Mitotic Checkpoint Pathway -->
|
| 357 |
+
<section id="tab-pathway" class="tab-content">
|
| 358 |
+
<div class="pathway-grid">
|
| 359 |
+
<div class="card">
|
| 360 |
+
<div class="card-header">
|
| 361 |
+
<h3>βοΈ Spindle Assembly Checkpoint (SAC) & Centrosomal Protein Network</h3>
|
| 362 |
+
<span class="badge-rare">Mitotic Machinery</span>
|
| 363 |
+
</div>
|
| 364 |
+
<div class="card-body">
|
| 365 |
+
<div class="pathway-diagram" id="pathwayComplexes">
|
| 366 |
+
<!-- Rendered via JS -->
|
| 367 |
+
</div>
|
| 368 |
+
</div>
|
| 369 |
+
</div>
|
| 370 |
+
</div>
|
| 371 |
+
</section>
|
| 372 |
+
|
| 373 |
+
<!-- Variant Detail Modal -->
|
| 374 |
+
<div id="modalVariant" class="modal-overlay hidden">
|
| 375 |
+
<div class="modal-card">
|
| 376 |
+
<div class="modal-header">
|
| 377 |
+
<h2 id="modalVarTitle">𧬠Variant Details</h2>
|
| 378 |
+
<button id="btnCloseVarModal" class="modal-close">β</button>
|
| 379 |
+
</div>
|
| 380 |
+
<div class="modal-body" id="modalVarBody">
|
| 381 |
+
<!-- Rendered via JS -->
|
| 382 |
+
</div>
|
| 383 |
+
</div>
|
| 384 |
+
</div>
|
| 385 |
+
|
| 386 |
+
<!-- Shortcuts Modal -->
|
| 387 |
+
<div id="modalHelp" class="modal-overlay hidden">
|
| 388 |
+
<div class="modal-card">
|
| 389 |
+
<div class="modal-header">
|
| 390 |
+
<h2>β¨ 5D Studio Keyboard Shortcuts</h2>
|
| 391 |
+
<button id="btnCloseHelpModal" class="modal-close">β</button>
|
| 392 |
+
</div>
|
| 393 |
+
<div class="modal-body">
|
| 394 |
+
<div class="shortcut-grid">
|
| 395 |
+
<div class="shortcut-item"><kbd>1</kbd><span>Switch to Clinical Phenotype tab</span></div>
|
| 396 |
+
<div class="shortcut-item"><kbd>2</kbd><span>Switch to Variant Navigator tab</span></div>
|
| 397 |
+
<div class="shortcut-item"><kbd>3</kbd><span>Switch to Mosaicism Spectrum tab</span></div>
|
| 398 |
+
<div class="shortcut-item"><kbd>4</kbd><span>Switch to WGS Sequencing tab</span></div>
|
| 399 |
+
<div class="shortcut-item"><kbd>5</kbd><span>Switch to Mitotic Pathway tab</span></div>
|
| 400 |
+
<div class="shortcut-item"><kbd>/</kbd><span>Focus Variant Search bar</span></div>
|
| 401 |
+
<div class="shortcut-item"><kbd>Esc</kbd><span>Close modals</span></div>
|
| 402 |
+
</div>
|
| 403 |
+
</div>
|
| 404 |
+
</div>
|
| 405 |
+
</div>
|
| 406 |
+
</div>
|
| 407 |
+
|
| 408 |
+
<script src="app.js"></script>
|
| 409 |
+
</body>
|
| 410 |
</html>
|