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main.go
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package main
import (
"encoding/json"
"encoding/xml"
"flag"
"fmt"
"log"
"os"
"github.com/davecgh/go-spew/spew"
)
type ClinVarDataRelease struct {
XMLName xml.Name `xml:"ClinVarVariationRelease"`
Text string `xml:",chardata"`
Xsi string `xml:"xsi,attr"`
NoNamespaceSchemaLocation string `xml:"noNamespaceSchemaLocation,attr"`
ReleaseDate string `xml:"ReleaseDate,attr"`
Variants []VariationArchive `xml:"VariationArchive"`
}
type VariationArchive struct {
Text string `xml:",chardata"`
VariationID string `xml:"VariationID,attr"`
VariationName string `xml:"VariationName,attr"`
VariationType string `xml:"VariationType,attr"`
DateCreated string `xml:"DateCreated,attr"`
DateLastUpdated string `xml:"DateLastUpdated,attr"`
Accession string `xml:"Accession,attr"`
Version string `xml:"Version,attr"`
RecordType string `xml:"RecordType,attr"`
NumberOfSubmissions string `xml:"NumberOfSubmissions,attr"`
NumberOfSubmitters string `xml:"NumberOfSubmitters,attr"`
RecordStatus string `xml:"RecordStatus"`
Species string `xml:"Species"`
InterpretedRecord struct {
Text string `xml:",chardata"`
SimpleAllele struct {
Text string `xml:",chardata"`
AlleleID string `xml:"AlleleID,attr"`
VariationID string `xml:"VariationID,attr"`
GeneList struct {
Text string `xml:",chardata"`
Gene []struct {
Text string `xml:",chardata"`
Symbol string `xml:"Symbol,attr"`
FullName string `xml:"FullName,attr"`
GeneID string `xml:"GeneID,attr"`
HGNCID string `xml:"HGNC_ID,attr"`
Source string `xml:"Source,attr"`
RelationshipType string `xml:"RelationshipType,attr"`
Location struct {
Text string `xml:",chardata"`
CytogeneticLocation string `xml:"CytogeneticLocation"`
SequenceLocation []struct {
Text string `xml:",chardata"`
Assembly string `xml:"Assembly,attr"`
AssemblyAccessionVersion string `xml:"AssemblyAccessionVersion,attr"`
AssemblyStatus string `xml:"AssemblyStatus,attr"`
Chr string `xml:"Chr,attr"`
Accession string `xml:"Accession,attr"`
Start string `xml:"start,attr"`
Stop string `xml:"stop,attr"`
DisplayStart string `xml:"display_start,attr"`
DisplayStop string `xml:"display_stop,attr"`
Strand string `xml:"Strand,attr"`
} `xml:"SequenceLocation"`
} `xml:"Location"`
OMIM string `xml:"OMIM"`
Haploinsufficiency struct {
Text string `xml:",chardata"`
LastEvaluated string `xml:"last_evaluated,attr"`
ClinGen string `xml:"ClinGen,attr"`
} `xml:"Haploinsufficiency"`
Triplosensitivity struct {
Text string `xml:",chardata"`
LastEvaluated string `xml:"last_evaluated,attr"`
ClinGen string `xml:"ClinGen,attr"`
} `xml:"Triplosensitivity"`
Property []string `xml:"Property"`
} `xml:"Gene"`
} `xml:"GeneList"`
Name string `xml:"Name"`
Type string `xml:"Type"`
Location struct {
Text string `xml:",chardata"`
CytogeneticLocation string `xml:"CytogeneticLocation"`
SequenceLocation []struct {
Text string `xml:",chardata"`
Assembly string `xml:"Assembly,attr"`
AssemblyAccessionVersion string `xml:"AssemblyAccessionVersion,attr"`
ForDisplay string `xml:"forDisplay,attr"`
AssemblyStatus string `xml:"AssemblyStatus,attr"`
Chr string `xml:"Chr,attr"`
Accession string `xml:"Accession,attr"`
Start string `xml:"start,attr"`
Stop string `xml:"stop,attr"`
DisplayStart string `xml:"display_start,attr"`
DisplayStop string `xml:"display_stop,attr"`
Length string `xml:"Length,attr"`
PositionVCF string `xml:"positionVCF,attr"`
ReferenceAlleleVCF string `xml:"referenceAlleleVCF,attr"`
AlternateAlleleVCF string `xml:"alternateAlleleVCF,attr"`
} `xml:"SequenceLocation"`
} `xml:"Location"`
OtherNameList struct {
Text string `xml:",chardata"`
Name []string `xml:"Name"`
} `xml:"OtherNameList"`
XRefList struct {
Text string `xml:",chardata"`
XRef []struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
ID string `xml:"ID,attr"`
DB string `xml:"DB,attr"`
} `xml:"XRef"`
} `xml:"XRefList"`
CanonicalSPDI string `xml:"CanonicalSPDI"`
HGVSlist struct {
Text string `xml:",chardata"`
HGVS []struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
Assembly string `xml:"Assembly,attr"`
NucleotideExpression struct {
Text string `xml:",chardata"`
SequenceAccessionVersion string `xml:"sequenceAccessionVersion,attr"`
SequenceAccession string `xml:"sequenceAccession,attr"`
SequenceVersion string `xml:"sequenceVersion,attr"`
Change string `xml:"change,attr"`
Assembly string `xml:"Assembly,attr"`
MANESelect string `xml:"MANESelect,attr"`
Expression string `xml:"Expression"`
} `xml:"NucleotideExpression"`
MolecularConsequence struct {
Text string `xml:",chardata"`
ID string `xml:"ID,attr"`
Type string `xml:"Type,attr"`
DB string `xml:"DB,attr"`
} `xml:"MolecularConsequence"`
ProteinExpression struct {
Text string `xml:",chardata"`
SequenceAccessionVersion string `xml:"sequenceAccessionVersion,attr"`
SequenceAccession string `xml:"sequenceAccession,attr"`
SequenceVersion string `xml:"sequenceVersion,attr"`
Change string `xml:"change,attr"`
Expression string `xml:"Expression"`
} `xml:"ProteinExpression"`
} `xml:"HGVS"`
} `xml:"HGVSlist"`
AlleleFrequencyList struct {
Text string `xml:",chardata"`
AlleleFrequency []struct {
Text string `xml:",chardata"`
Value string `xml:"Value,attr"`
Source string `xml:"Source,attr"`
} `xml:"AlleleFrequency"`
} `xml:"AlleleFrequencyList"`
GlobalMinorAlleleFrequency struct {
Text string `xml:",chardata"`
Value string `xml:"Value,attr"`
Source string `xml:"Source,attr"`
MinorAllele string `xml:"MinorAllele,attr"`
} `xml:"GlobalMinorAlleleFrequency"`
ProteinChange []string `xml:"ProteinChange"`
} `xml:"SimpleAllele"`
ReviewStatus string `xml:"ReviewStatus"`
RCVList struct {
Text string `xml:",chardata"`
RCVAccession []struct {
Text string `xml:",chardata"`
Title string `xml:"Title,attr"`
DateLastEvaluated string `xml:"DateLastEvaluated,attr"`
ReviewStatus string `xml:"ReviewStatus,attr"`
Interpretation string `xml:"Interpretation,attr"`
SubmissionCount string `xml:"SubmissionCount,attr"`
Accession string `xml:"Accession,attr"`
Version string `xml:"Version,attr"`
InterpretedConditionList struct {
Text string `xml:",chardata"`
TraitSetID string `xml:"TraitSetID,attr"`
InterpretedCondition struct {
Text string `xml:",chardata"`
DB string `xml:"DB,attr"`
ID string `xml:"ID,attr"`
} `xml:"InterpretedCondition"`
} `xml:"InterpretedConditionList"`
} `xml:"RCVAccession"`
} `xml:"RCVList"`
Interpretations struct {
Text string `xml:",chardata"`
Interpretation struct {
Text string `xml:",chardata"`
DateLastEvaluated string `xml:"DateLastEvaluated,attr"`
NumberOfSubmissions string `xml:"NumberOfSubmissions,attr"`
NumberOfSubmitters string `xml:"NumberOfSubmitters,attr"`
Type string `xml:"Type,attr"`
Description string `xml:"Description"`
Citation []struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
ID struct {
Text string `xml:",chardata"`
Source string `xml:"Source,attr"`
} `xml:"ID"`
URL string `xml:"URL"`
} `xml:"Citation"`
ConditionList struct {
Text string `xml:",chardata"`
TraitSet []struct {
Text string `xml:",chardata"`
ID string `xml:"ID,attr"`
Type string `xml:"Type,attr"`
Trait struct {
Text string `xml:",chardata"`
ID string `xml:"ID,attr"`
Type string `xml:"Type,attr"`
Name []struct {
Text string `xml:",chardata"`
ElementValue struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
} `xml:"ElementValue"`
XRef []struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
ID string `xml:"ID,attr"`
DB string `xml:"DB,attr"`
} `xml:"XRef"`
} `xml:"Name"`
XRef []struct {
Text string `xml:",chardata"`
ID string `xml:"ID,attr"`
DB string `xml:"DB,attr"`
Type string `xml:"Type,attr"`
} `xml:"XRef"`
Symbol []struct {
Text string `xml:",chardata"`
ElementValue struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
} `xml:"ElementValue"`
XRef struct {
Text string `xml:",chardata"`
ID string `xml:"ID,attr"`
DB string `xml:"DB,attr"`
Type string `xml:"Type,attr"`
} `xml:"XRef"`
} `xml:"Symbol"`
AttributeSet []struct {
Text string `xml:",chardata"`
Attribute struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
IntegerValue string `xml:"integerValue,attr"`
} `xml:"Attribute"`
XRef struct {
Text string `xml:",chardata"`
ID string `xml:"ID,attr"`
DB string `xml:"DB,attr"`
} `xml:"XRef"`
} `xml:"AttributeSet"`
Citation []struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
Abbrev string `xml:"Abbrev,attr"`
ID []struct {
Text string `xml:",chardata"`
Source string `xml:"Source,attr"`
} `xml:"ID"`
} `xml:"Citation"`
} `xml:"Trait"`
} `xml:"TraitSet"`
} `xml:"ConditionList"`
DescriptionHistory []struct {
Text string `xml:",chardata"`
Dated string `xml:"Dated,attr"`
Description string `xml:"Description"`
} `xml:"DescriptionHistory"`
} `xml:"Interpretation"`
} `xml:"Interpretations"`
ClinicalAssertionList struct {
Text string `xml:",chardata"`
ClinicalAssertion []struct {
Text string `xml:",chardata"`
ID string `xml:"ID,attr"`
DateCreated string `xml:"DateCreated,attr"`
DateLastUpdated string `xml:"DateLastUpdated,attr"`
SubmissionDate string `xml:"SubmissionDate,attr"`
FDARecognizedDatabase string `xml:"FDARecognizedDatabase,attr"`
ClinVarSubmissionID struct {
Text string `xml:",chardata"`
LocalKey string `xml:"localKey,attr"`
Title string `xml:"title,attr"`
LocalKeyIsSubmitted string `xml:"localKeyIsSubmitted,attr"`
SubmittedAssembly string `xml:"submittedAssembly,attr"`
} `xml:"ClinVarSubmissionID"`
ClinVarAccession struct {
Text string `xml:",chardata"`
Accession string `xml:"Accession,attr"`
Type string `xml:"Type,attr"`
Version string `xml:"Version,attr"`
SubmitterName string `xml:"SubmitterName,attr"`
OrgID string `xml:"OrgID,attr"`
OrganizationCategory string `xml:"OrganizationCategory,attr"`
OrgAbbreviation string `xml:"OrgAbbreviation,attr"`
} `xml:"ClinVarAccession"`
RecordStatus string `xml:"RecordStatus"`
ReviewStatus string `xml:"ReviewStatus"`
Interpretation struct {
Text string `xml:",chardata"`
DateLastEvaluated string `xml:"DateLastEvaluated,attr"`
Description string `xml:"Description"`
Citation []struct {
Text string `xml:",chardata"`
ID struct {
Text string `xml:",chardata"`
Source string `xml:"Source,attr"`
} `xml:"ID"`
URL string `xml:"URL"`
} `xml:"Citation"`
Comment struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
} `xml:"Comment"`
} `xml:"Interpretation"`
Assertion string `xml:"Assertion"`
ObservedInList struct {
Text string `xml:",chardata"`
ObservedIn struct {
Text string `xml:",chardata"`
Sample struct {
Text string `xml:",chardata"`
Origin string `xml:"Origin"`
Species struct {
Text string `xml:",chardata"`
TaxonomyId string `xml:"TaxonomyId,attr"`
} `xml:"Species"`
AffectedStatus string `xml:"AffectedStatus"`
NumberTested string `xml:"NumberTested"`
} `xml:"Sample"`
Method struct {
Text string `xml:",chardata"`
MethodType string `xml:"MethodType"`
TypePlatform string `xml:"TypePlatform"`
} `xml:"Method"`
ObservedData struct {
Text string `xml:",chardata"`
Attribute struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
IntegerValue string `xml:"integerValue,attr"`
} `xml:"Attribute"`
Citation []struct {
Text string `xml:",chardata"`
ID struct {
Text string `xml:",chardata"`
Source string `xml:"Source,attr"`
} `xml:"ID"`
} `xml:"Citation"`
XRef struct {
Text string `xml:",chardata"`
DB string `xml:"DB,attr"`
ID string `xml:"ID,attr"`
Type string `xml:"Type,attr"`
} `xml:"XRef"`
} `xml:"ObservedData"`
} `xml:"ObservedIn"`
} `xml:"ObservedInList"`
SimpleAllele struct {
Text string `xml:",chardata"`
GeneList struct {
Text string `xml:",chardata"`
Gene struct {
Text string `xml:",chardata"`
Symbol string `xml:"Symbol,attr"`
} `xml:"Gene"`
} `xml:"GeneList"`
Name string `xml:"Name"`
Type string `xml:"Type"`
OtherNameList struct {
Text string `xml:",chardata"`
Name struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
} `xml:"Name"`
} `xml:"OtherNameList"`
XRefList struct {
Text string `xml:",chardata"`
XRef struct {
Text string `xml:",chardata"`
DB string `xml:"DB,attr"`
ID string `xml:"ID,attr"`
Type string `xml:"Type,attr"`
} `xml:"XRef"`
} `xml:"XRefList"`
AttributeSet struct {
Text string `xml:",chardata"`
Attribute struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
} `xml:"Attribute"`
} `xml:"AttributeSet"`
Location struct {
Text string `xml:",chardata"`
SequenceLocation struct {
Text string `xml:",chardata"`
Assembly string `xml:"Assembly,attr"`
Chr string `xml:"Chr,attr"`
AlternateAllele string `xml:"alternateAllele,attr"`
ReferenceAllele string `xml:"referenceAllele,attr"`
Start string `xml:"start,attr"`
Stop string `xml:"stop,attr"`
Length string `xml:"Length,attr"`
} `xml:"SequenceLocation"`
} `xml:"Location"`
} `xml:"SimpleAllele"`
TraitSet struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
Trait struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
Name struct {
Text string `xml:",chardata"`
ElementValue struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
} `xml:"ElementValue"`
} `xml:"Name"`
XRef struct {
Text string `xml:",chardata"`
DB string `xml:"DB,attr"`
ID string `xml:"ID,attr"`
Type string `xml:"Type,attr"`
} `xml:"XRef"`
} `xml:"Trait"`
} `xml:"TraitSet"`
AttributeSet []struct {
Text string `xml:",chardata"`
Attribute struct {
Text string `xml:",chardata"`
Type string `xml:"Type,attr"`
} `xml:"Attribute"`
Citation struct {
Text string `xml:",chardata"`
URL string `xml:"URL"`
ID struct {
Text string `xml:",chardata"`
Source string `xml:"Source,attr"`
} `xml:"ID"`
} `xml:"Citation"`
} `xml:"AttributeSet"`
SubmissionNameList struct {
Text string `xml:",chardata"`
SubmissionName string `xml:"SubmissionName"`
} `xml:"SubmissionNameList"`
Comment string `xml:"Comment"`
} `xml:"ClinicalAssertion"`
} `xml:"ClinicalAssertionList"`
TraitMappingList struct {
Text string `xml:",chardata"`
TraitMapping []struct {
Text string `xml:",chardata"`
ClinicalAssertionID string `xml:"ClinicalAssertionID,attr"`
TraitType string `xml:"TraitType,attr"`
MappingType string `xml:"MappingType,attr"`
MappingValue string `xml:"MappingValue,attr"`
MappingRef string `xml:"MappingRef,attr"`
MedGen struct {
Text string `xml:",chardata"`
CUI string `xml:"CUI,attr"`
Name string `xml:"Name,attr"`
} `xml:"MedGen"`
} `xml:"TraitMapping"`
} `xml:"TraitMappingList"`
} `xml:"InterpretedRecord"`
}
type ClinVarDataReleaseInfo struct {
W3SchemaInfo string
ClinVarSchemaVersion string
ClinVarReleaseDate string
}
type ClinVarVariationData struct {
Accesssion string
Version string
Type string
GeneAffected string
GeneEntrezID string
GeneOmimID string
NcbiRefSeq string
LocationType string
DbSNPID string
GenomeVersion string
ChromLocation string
ChromStart string
ChromStop string
Length string
OmimID string
ReviewStatus string
HGVData []HGVData
RCVData []RCVData
ClinicalInterpretations ClinicalInterpretations
// ClinicalAssertions []ClinicalAssertions
}
type HGVData struct {
Consequence string
}
type RCVData struct {
AccessionID string
Version string
Interpretation string
Condition string
SubmissionCount string
ReviewStatus string
MedGenID string
TraitSetID string
}
type ClinicalInterpretations struct {
Citations []Citations
Trait []Traits
}
type Citations struct {
CitationSource string
CitationID string
}
type Traits struct {
ID string
Name string
Citations []Citations
PhenotypicSeries string
MIM string
MedGen string
Orph string
}
// type ClinicalAssertions struct {
// ClinicalAssertionAccession string
// ClinicalAssertionVersion string
// ClinicalAssertionID string
// ClinicalAssertionSubmitterName string
// ClinicalAssertionInterpretation string
// ClinicalAssertionPhenoSeries string
// ClinicalAssertionMESH string
// ClinicalAssertionOrphanet string
// ClinicalAssertionMedgen string
// ClinicalAssertionMethodType string
// ClinicalAssertionSCVID string
// ClinicalAssertionSCVIDReviewStatus string
// TraitMappingDisease string
// }
func main() {
//Define default flag values and enable input from command line
inputXML := flag.String("i", "", "Path of XML file to open")
releaseData := flag.String("r", "", "Indication if only the ClinVar release schemas and data are desired")
outputFile := flag.String("o", "", "Path of file to write")
flag.Parse()
data, err := parseXMLFileToData(*inputXML)
if err != nil {
log.Fatal("Could not parse XML file", err)
}
//Obtain top-level info for ClinVar file being used
if *releaseData == "yes" {
var releaseInfo ClinVarDataReleaseInfo
releaseInfo = data.extractReleaseInfo()
spew.Dump(releaseInfo)
}
//Obtain top-level information for variants
var allVariantsData []ClinVarVariationData
allVariantsData = data.extractAllVariants()
jsonMarshal, err := json.Marshal(allVariantsData)
if err != nil {
fmt.Printf("Error: %s", err)
} else if *outputFile == "" {
fmt.Println(string(jsonMarshal))
return
} else {
writeClinVarVariationDataFile(*outputFile, jsonMarshal)
}
}
func parseXMLFileToData(file string) (*ClinVarDataRelease, error) {
variantFile := os.Stdin
var err error
// Open XML file for reading
if len(file) > 0 {
variantFile, err = os.Open(file)
if err != nil {
log.Fatal(err)
} else {
fmt.Fprintln(os.Stderr, "Variant info file has opened successfully!")
}
}
defer variantFile.Close()
// Create XML decoder
xmlDecoder := xml.NewDecoder(variantFile)
//Parse XML file into the variant data struct variable (top level ClinVarDataRelease wrapper)
var data ClinVarDataRelease
err = xmlDecoder.Decode(&data)
if err != nil {
return nil, err
}
return &data, nil
}
func (data ClinVarDataRelease) extractReleaseInfo() ClinVarDataReleaseInfo {
clinRelease := ClinVarDataReleaseInfo{}
clinRelease.W3SchemaInfo = data.Xsi
clinRelease.ClinVarSchemaVersion = data.NoNamespaceSchemaLocation
clinRelease.ClinVarReleaseDate = data.ReleaseDate
return clinRelease
}
func (data *ClinVarDataRelease) extractAllVariants() []ClinVarVariationData {
allVariantsInfo := []ClinVarVariationData{}
for _, variant := range data.Variants {
singleVariantInfo := variant.extractClinVarVariantData()
allVariantsInfo = append(allVariantsInfo, singleVariantInfo)
}
return allVariantsInfo
}
func (variant *VariationArchive) extractClinVarVariantData() ClinVarVariationData {
singleVariantInfo := ClinVarVariationData{}
singleVariantInfo.Accesssion = variant.Accession
singleVariantInfo.Version = variant.Version
singleVariantInfo.Type = variant.VariationType
if len(variant.InterpretedRecord.SimpleAllele.Location.SequenceLocation) > 0 && len(variant.InterpretedRecord.SimpleAllele.GeneList.Gene) > 0 && len(variant.InterpretedRecord.SimpleAllele.GeneList.Gene[0].Location.SequenceLocation) > 0 {
if variant.InterpretedRecord.SimpleAllele.Location.SequenceLocation[0].Start >= variant.InterpretedRecord.SimpleAllele.GeneList.Gene[0].Location.SequenceLocation[0].Start && variant.InterpretedRecord.SimpleAllele.Location.SequenceLocation[0].Stop <= variant.InterpretedRecord.SimpleAllele.GeneList.Gene[0].Location.SequenceLocation[0].Stop {
singleVariantInfo.LocationType = "withinGene"
} else {
singleVariantInfo.LocationType = "outsideGene"
}
} else {
singleVariantInfo.LocationType = "notProvided"
}
if len(variant.InterpretedRecord.SimpleAllele.GeneList.Gene) > 0 {
singleVariantInfo.GeneAffected = variant.InterpretedRecord.SimpleAllele.GeneList.Gene[0].Symbol
singleVariantInfo.GeneEntrezID = variant.InterpretedRecord.SimpleAllele.GeneList.Gene[0].GeneID
singleVariantInfo.GeneOmimID = variant.InterpretedRecord.SimpleAllele.GeneList.Gene[0].OMIM
//TODO: spew.Dump()
} else {
singleVariantInfo.GeneAffected = "notProvided"
singleVariantInfo.GeneEntrezID = "notProvided"
singleVariantInfo.GeneOmimID = "notProvided"
}
singleVariantInfo.NcbiRefSeq = variant.InterpretedRecord.SimpleAllele.CanonicalSPDI
if len(variant.InterpretedRecord.SimpleAllele.XRefList.XRef) > 0 {
for _, snpdbXref := range variant.InterpretedRecord.SimpleAllele.XRefList.XRef {
if snpdbXref.DB == "dbSNP" {
singleVariantInfo.DbSNPID = snpdbXref.ID
} else {
singleVariantInfo.DbSNPID = "notProvided"
}
}
}
singleVariantInfo.ChromLocation = variant.InterpretedRecord.SimpleAllele.Location.CytogeneticLocation
if len(variant.InterpretedRecord.SimpleAllele.Location.SequenceLocation) > 0 {
singleVariantInfo.GenomeVersion = variant.InterpretedRecord.SimpleAllele.Location.SequenceLocation[0].Assembly
singleVariantInfo.ChromStart = variant.InterpretedRecord.SimpleAllele.Location.SequenceLocation[0].Start
singleVariantInfo.ChromStop = variant.InterpretedRecord.SimpleAllele.Location.SequenceLocation[0].Stop
singleVariantInfo.Length = variant.InterpretedRecord.SimpleAllele.Location.SequenceLocation[0].Length
} else {
singleVariantInfo.GenomeVersion = "notProvided"
singleVariantInfo.ChromStart = "notProvided"
singleVariantInfo.ChromStop = "notProvided"
singleVariantInfo.Length = "notProvided"
}
if len(variant.InterpretedRecord.SimpleAllele.XRefList.XRef) > 0 {
for _, omimXref := range variant.InterpretedRecord.SimpleAllele.XRefList.XRef {
if omimXref.DB == "OMIM" {
singleVariantInfo.OmimID = omimXref.ID
} else {
singleVariantInfo.OmimID = "notProvided"
}
}
}
singleVariantInfo.ReviewStatus = variant.InterpretedRecord.ReviewStatus
variantHgvConsequence := []HGVData{}
for _, hgvs := range variant.InterpretedRecord.SimpleAllele.HGVSlist.HGVS {
nc := ""
if hgvs.MolecularConsequence.Type != "" {
nc = hgvs.MolecularConsequence.Type
skip := false
for _, cons := range variantHgvConsequence {
oc := cons.Consequence
if nc == oc {
skip = true
break
}
}
if !skip {
variantHgvConsequence = append(variantHgvConsequence, HGVData{
Consequence: nc})
}
}
}
singleVariantInfo.HGVData = variantHgvConsequence
variantAllRcvs := []RCVData{}
for _, rcvs := range variant.InterpretedRecord.RCVList.RCVAccession {
if rcvs.InterpretedConditionList.InterpretedCondition.DB == "MedGen" {
variantAllRcvs = append(variantAllRcvs, RCVData{
AccessionID: rcvs.Accession,
Version: rcvs.Version,
Interpretation: rcvs.Interpretation,
Condition: rcvs.InterpretedConditionList.InterpretedCondition.Text,
SubmissionCount: rcvs.SubmissionCount,
ReviewStatus: rcvs.ReviewStatus,
MedGenID: rcvs.InterpretedConditionList.InterpretedCondition.ID,
TraitSetID: rcvs.InterpretedConditionList.TraitSetID})
} else {
variantAllRcvs = append(variantAllRcvs, RCVData{
AccessionID: rcvs.Accession,
Version: rcvs.Version,
Interpretation: rcvs.Interpretation,
SubmissionCount: rcvs.SubmissionCount,
ReviewStatus: rcvs.ReviewStatus,
MedGenID: "notProvided",
Condition: "notProvided",
TraitSetID: rcvs.InterpretedConditionList.TraitSetID})
}
}
singleVariantInfo.RCVData = variantAllRcvs
variantAllCitations := []Citations{}
for _, citations := range variant.InterpretedRecord.Interpretations.Interpretation.Citation {
variantAllCitations = append(variantAllCitations, Citations{
CitationSource: citations.ID.Source,
CitationID: citations.ID.Text})
}
singleVariantInfo.ClinicalInterpretations.Citations = variantAllCitations
variantAllTraits := []Traits{}
for _, trait := range variant.InterpretedRecord.Interpretations.Interpretation.ConditionList.TraitSet {
for _, name := range trait.Trait.Name {
nt := Traits{ID: trait.Trait.ID}
if name.ElementValue.Type == "Preferred" {
nt.Name = name.ElementValue.Text
} else {
continue
}
for _, xRefTrait := range trait.Trait.XRef {
if xRefTrait.DB == "Orphanet" {
nt.Orph = xRefTrait.ID
} else if xRefTrait.DB == "MedGen" {
nt.MedGen = xRefTrait.ID
} else if xRefTrait.DB == "OMIM" {
if xRefTrait.Type == "Phenotypic series" {
nt.PhenotypicSeries = xRefTrait.ID
} else if xRefTrait.Type == "MIM" {
nt.MIM = xRefTrait.ID
}
}
}
for _, citations := range trait.Trait.Citation {
for _, citationsInfo := range citations.ID {
nt.Citations = append(nt.Citations, Citations{
CitationSource: citationsInfo.Source,
CitationID: citationsInfo.Text})
}
}
variantAllTraits = append(variantAllTraits, nt)
}
}
singleVariantInfo.ClinicalInterpretations.Trait = variantAllTraits
return singleVariantInfo
}
func writeClinVarVariationDataFile(outputFile string, jsonMarshal []byte) {
out := os.Stdout
var err error
if len(outputFile) > 0 {
out, err = os.Create(outputFile)
if err != nil {
log.Fatal("Could not create outputfile: ", outputFile, "\n", err)
}
}
defer out.Close()
out.WriteString(string(jsonMarshal))
}