o
bio.ferlab.datalake.testutils.models.prepared
PreparedVariantCentric
Companion class PreparedVariantCentric
object PreparedVariantCentric extends Serializable
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- case class AMINO_ACIDS(reference: String = "S", variant: Option[String] = None) extends Product with Serializable
- case class CLINVAR(clinvar_id: String = "257668", clin_sig: Seq[String] = Seq("Benign"), conditions: Seq[String] = ..., inheritance: Seq[String] = Seq("germline"), interpretations: Seq[String] = Seq("Benign")) extends Product with Serializable
- case class CODONS(reference: String = "tcT", variant: String = "tcC") extends Product with Serializable
- case class CONSEQUENCES(ensembl_transcript_id: String = "ENST00000335137", vep_impact: String = "LOW", ensembl_feature_id: String = "ENST00000335137", feature_type: String = "Transcript", strand: Int = 1, exon: EXON = EXON(), intron: INTRON = INTRON(), hgvsc: String = "ENST00000335137.4:c.807T>C", hgvsp: String = "ENSP00000334393.3:p.Ser269=", cds_position: Int = 807, cdna_position: Int = 843, protein_position: Int = 269, amino_acids: AMINO_ACIDS = AMINO_ACIDS(), codons: CODONS = CODONS(), refseq_mrna_id: Seq[String] = ..., refseq_protein_id: Option[String] = Some("NP_001005277"), aa_change: String = "p.Ser269=", coding_dna_change: String = "c.807T>C", impact_score: Int = 2, consequence: Seq[String] = Seq("synonymous"), predictions: PREDICTIONS = PREDICTIONS(), conservations: CONSERVATIONS = CONSERVATIONS(), uniprot_id: Option[String] = Some("Q6IEY1"), mane_select: Boolean = true, mane_plus: Boolean = true, canonical: Boolean = true, picked: Boolean = true) extends Product with Serializable
- case class COSMIC(tumour_types_germline: Seq[String] = ...) extends Product with Serializable
- case class DDD(disease_name: String = "OCULOAURICULAR SYNDROME") extends Product with Serializable
- case class EXON(rank: String = "1", total: Int = 1) extends Product with Serializable
- case class EXTERNAL_FREQUENCIES(thousand_genomes: THOUSAND_GENOMES = THOUSAND_GENOMES(), topmed_bravo: TOPMED_BRAVO = TOPMED_BRAVO(), gnomad_genomes_2_1_1: GNOMAD_GENOMES_2_1_1 = GNOMAD_GENOMES_2_1_1(), gnomad_exomes_2_1_1: GNOMAD_EXOMES_2_1_1 = GNOMAD_EXOMES_2_1_1(), gnomad_genomes_3: GNOMAD_GENOMES_3 = GNOMAD_GENOMES_3()) extends Product with Serializable
- case class FREQUENCY(total: TOTAL = TOTAL()) extends Product with Serializable
- case class GENES(symbol: String = "OR4F5", entrez_gene_id: Option[String] = Some("777"), omim_gene_id: Option[String] = Some("601013"), hgnc: Option[String] = Some("HGNC:1392"), ensembl_gene_id: Option[String] = Some("ENSG00000198216"), location: Option[String] = Some("1q25.3"), name: Option[String] = ..., alias: Option[Seq[String]] = ..., biotype: Option[String] = Some("protein_coding"), orphanet: Option[Seq[ORPHANET]] = Some(Seq(ORPHANET())), hpo: Option[Seq[HPO]] = Some(Seq(HPO())), omim: Option[Seq[OMIM]] = Some(Seq(OMIM())), ddd: Option[Seq[DDD]] = Some(Seq(DDD())), cosmic: Option[Seq[COSMIC]] = Some(Seq(COSMIC())), spliceai: Option[SPLICEAI] = Some(SPLICEAI()), gnomad: Option[GNOMAD] = Some(GNOMAD()), consequences: Seq[CONSEQUENCES] = Seq(CONSEQUENCES())) extends Product with Serializable
- case class GNOMAD(pli: Float = 1.0f, loeuf: Float = 0.054f) extends Product with Serializable
- case class GNOMAD_EXOMES_2_1_1(ac: Long = 0, an: Long = 2, af: Double = 0.0, hom: Long = 0) extends Product with Serializable
- case class GNOMAD_GENOMES_2_1_1(ac: Long = 1, an: Long = 26342, af: Double = 3.7962189659099535E-5, hom: Long = 0) extends Product with Serializable
- case class GNOMAD_GENOMES_3(ac: Long = 10, an: Long = 20, af: Double = 0.5, hom: Long = 10) extends Product with Serializable
- case class HPO(hpo_term_id: String = "HP:0001347", hpo_term_name: String = "Hyperreflexia", hpo_term_label: String = "Hyperreflexia (HP:0001347)") extends Product with Serializable
- case class INTRON(rank: Option[String] = None, total: Option[Int] = None) extends Product with Serializable
- case class OMIM(name: String = ..., omim_id: String = "618285", inheritance: Seq[String] = Seq("Autosomal dominant"), inheritance_code: Seq[String] = Seq("AD")) extends Product with Serializable
- case class ORPHANET(disorder_id: Long = 17827, panel: String = ..., inheritance: Seq[String] = Seq("Autosomal recessive")) extends Product with Serializable
- case class SPLICEAI(ds: Double = 0.01, type: Seq[String] = Seq("AG")) extends Product with Serializable
- case class THOUSAND_GENOMES(ac: Long = 3446, an: Long = 5008, af: Double = 0.688099) extends Product with Serializable
- case class TOPMED_BRAVO(ac: Long = 2, an: Long = 125568, af: Double = 1.59276E-5, hom: Long = 0, het: Long = 2) extends Product with Serializable
- case class TOTAL(ac: Long = 4, an: Long = 4, pc: Long = 2, pn: Long = 2, hom: Long = 2) extends Product with Serializable
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- object GENES extends Serializable
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