{% from "cases/utils.html" import variant_transcripts %} {% extends "report_base.html" %} {% block title %} {{ super() }} - {{ institute.display_name }} - {{ case.display_name }} {% endblock %} {% set affected = [] %} {% set printed_vars = [] %} {% block body %}
{% if format == 'html' %}
{{ case.madeline_info|safe }}
{% elif case.madeline_path %}
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{% endif %}
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Case status:
{% if 'solved' in case.status%}
{{case.status.upper()}}
{% else %}
{{case.status.upper()}}
{% endif %}
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{% if case.synopsis %} Synopsis: {{ case.synopsis|markdown }} {% endif %} |
Associated phenotypes: {% if case.phenotype_terms %}
Associated diagnoses: {% if case.diagnosis_phenotypes %}
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{% if comments | count_cursor > 0 %}
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Panel | Version | Genes | ||
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{{ panel.display_name|truncate(75, True) }} | {{ panel.version }} ({{ panel.updated_at.date() }}) | {{ panel.nr_genes }} | ||
No panels linked to case |
Coordinates | Cytoband | nucl. change | SNP ids | Gene panels | |
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chr{{variant.chromosome}}:{{variant.position}}-{{variant.end}} | {% if variant.cytoband_start and variant.cytoband_end %}{{variant.cytoband_start}}-{{variant.cytoband_end}} | {% else %}- | {% endif %}{{variant.reference}} → {{variant.alternative}} | {% if variant.dbsnp_id %} {% set dbsnp_ids = variant.dbsnp_id.split(';') %} {% for snp in dbsnp_ids %} {% if "rs" in snp %} dbSNP:{{ snp }} {% else %} ClinVar:{{ snp }} {% endif %} {% endfor %} {% else %} - {% endif %} | {% if variant.panels%} {% for panel_id in variant.panels %} {{ panel_id }} {% endfor %} {% endif %} |
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Scout Rank | Scout score | Manual rank | CADD score | {% if not cancer %}Inheritance models | {% endif %}ACMG classification |
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{{variant.variant_rank}} | {{variant.rank_score}} | {% if variant.manual_rank %} {{ manual_rank_options[variant.manual_rank]['label'] }} {% endif %} {% if variant.cancer_tier %} {{ cancer_tier_options[variant.cancer_tier]['label'] }} {% endif %} {% if not (variant.manual_rank or variant.cancer_tier) %} - {% endif %} | {% if variant.cadd_score %} {{ variant.cadd_score|round(1) }} {% else %} - {% endif %} | {% if not cancer %}{% if variant.genetic_models %} {% for model in variant.genetic_models|sort %} {{ model }} {% endfor %} {% else %} No models followed {% endif %} | {% endif %}{% if variant.acmg_classification %} {{variant.acmg_classification['code'] }} {% else %} - {% endif %} |
Affected gene(s) | Description | Region annotation | Transcript - HGVS - Protein | OMIM phenotypes [inheritance] |
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{{ gene.common.hgnc_symbol if gene.common else gene.hgnc_id }} | {{gene.description|title}} | {{gene.region_annotation}} | {{ variant_transcripts(gene) }} |
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Variant-related comments | ||
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Variant | Category | Genes | Dismissed description | |||||||||||||||||||||||
#{{loop.index}} | {% if variant.category == 'snv' %} {{variant.display_name[:30]}} {% elif variant.category == 'cancer' %} {{variant.display_name[:30]}} {% elif variant.category == 'sv' %} chr{{variant.chromosome}}:{{variant.position}}_{{variant.sub_category|upper}} {% else %} rep. {{variant.str_repid}} {% endif %} | {{variant.category|upper}} | {{ dismissed_gene_list(variant) }} |
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Variant type | length | Coordinates | Cytoband | Gene panels | Callers | |
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{{variant.sub_category|upper}} | {{ variant.length }} | {% if variant.chromosome == variant.end_chrom %} chr{{variant.chromosome}}:{{variant.position}}-{{variant.end}} {% else %} chr{{variant.chromosome}}:{{variant.position}}/{{'chr'+variant.end_chrom}}:{{variant.end}} {% endif %} | {% if variant.cytoband_start and variant.cytoband_end %}{{variant.cytoband_start}}-{{variant.cytoband_end}} | {% else %}- | {% endif %}
{% if variant.panels %}
{% for panel_id in variant.panels %}
{{ panel_id }} {% endfor %} {% endif %} |
{% if variant.callers %} {% for caller,call in variant.callers|sort %} {{ caller+':'+call }} {% endfor %} {% else %} - {% endif %} |
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Scout Rank | Scout score | Manual rank | {% if not cancer %}Inheritance models | {% endif %}ACMG classification |
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{{variant.variant_rank}} | {{variant.rank_score}} | {% if variant.manual_rank %} {{ manual_rank_options[variant.manual_rank]['label'] }} {% endif %} {% if variant.cancer_tier %} {{ cancer_rank_options[variant.cancer_tier]['label'] }} {% endif %} {% if not (variant.manual_rank or variant.cancer_tier) %} - {% endif %} | {% if variant.genetic_models %} {% for model in variant.genetic_models|sort %} {{ model }} {% endfor %} {% else %} No models followed {% endif %} | {% if variant.acmg_classification %} {{variant.acmg_classification['code'] }} {% else %} - {% endif %} |
Affected gene(s) | Description | Region annotation | Transcript - HGVS - Protein | OMIM phenotypes [inheritance] |
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{{ gene.common.hgnc_symbol if gene.common else gene.hgnc_id }} | {{gene.description|title}} | {{gene.region_annotation}} | {{ variant_transcripts(gene) }} |
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Variant-related comments | ||
{{comment.created_at.strftime('%Y-%m-%d')}} {{comment.user_name}} | {{ comment.content }} |
Variant type | Estimated size | Coordinates | Cytoband | Gene panels | |
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{{variant.category | upper}} | {{ variant.alternative|replace("STR", "")|replace("<", "")|replace(">", "") }} | {% if variant.chromosome == variant.end_chrom %} chr{{variant.chromosome}}:{{variant.position}}-{{variant.end}} {% else %} chr{{variant.chromosome}}:{{variant.position}}/{{'chr'+variant.end_chrom}}:{{variant.end}} {% endif %} | {% if variant.cytoband_start and variant.cytoband_end %}{{variant.cytoband_start}}-{{variant.cytoband_end}} | {% else %}- | {% endif %}
{% if variant.panels %}
{% for panel_id in variant.panels %}
{{ panel_id }} {% endfor %} {% endif %} |
Sample | Genotype (GT) | Allele depth (AD) | ExpansionHunter support | ||
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Reference | Alternative | ||||
{{ sample.display_name }} | {{ sample.genotype_call }} | {% if sample.allele_depths %} {% for number in sample.allele_depths %}{% if number == -1 %} N/A {% else %} {{ number }} {% endif %} | {% endfor %} {% else %}N/A | N/A | {% endif %}{{ sample.so }} |
Scout Rank | Scout score | Manual rank |
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{{variant.variant_rank}} | {{variant.rank_score}} | {% if variant.manual_rank %} {{ manual_rank_options[variant.manual_rank]['label'] }} {% endif %} {% if variant.cancer_tier %} {{ cancer_rank_options[variant.cancer_tier]['label'] }} {% endif %} {% if not (variant.manual_rank or variant.cancer_tier) %} - {% endif %} |
Disease | Source | |
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{{ variant.str_disease }} ({{ variant.str_inheritance_mode }}) | {% endif %} {% if variant.str_source is defined %}{{ variant.str_source.display }} | {% else %}- | {% endif %}
Variant-related comments | ||
{{comment.created_at.strftime('%Y-%m-%d')}} {{comment.user_name}} | {{ comment.content }} |