anno

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v2.21.0 Latest Latest
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Published: Jun 12, 2023 License: GPL-3.0 Imports: 18 Imported by: 2

Documentation

Index

Constants

This section is empty.

Variables

View Source
var (
	Tier1AFThreshold    = 0.01
	Tier1PLPAFThreshold = 0.05
	// in-house WGS AF threshold
	Tier1InHouseAFThreshold = 0.01
)
View Source
var AFlist = []string{
	"GnomAD EAS AF",
	"GnomAD AF",
	"1000G AF",
	"ESP6500 AF",
	"ExAC EAS AF",
	"ExAC AF",
	"PVFD AF",
	"Panel AlleleFreq",
	"wgs_GnomAD_AF",
}

AFlist default AF list for check

View Source
var FuncInfo = map[string]int{
	"splice-3":                3,
	"splice_acceptor_variant": 3,
	"splice-5":                3,
	"splice_donor_variant":    3,
	"init-loss":               3,
	"start_lost":              3,
	"alt-start":               3,
	"start_retained_variant":  3,
	"frameshift":              3,
	"frameshift_variant":      3,
	"nonsense":                3,
	"stop-gain":               3,
	"stop_gained":             3,
	"span":                    3,
	"stop-loss":               2,
	"stop_lost":               2,
	"missense":                2,
	"missense_variant":        2,
	"cds-del":                 2,
	"inframe_deletion":        2,
	"cds-indel":               2,
	"cds-ins":                 2,
	"inframe_insertion":       2,
	"splice-10":               2,
	"splice+10":               2,
	"coding-synon":            1,
	"synonymous_variant":      1,
	"splice-20":               1,
	"splice+20":               1,
}

FuncInfo classify function Tier1 >1 LoF 3 VEP: cds-indel span splice+-10 splice+-20

View Source
var HomFixRatioThreshold = 0.85
View Source
var (
	Tag1AFThreshold = 0.05
)

Functions

func AddClnsigConf added in v2.11.0

func AddClnsigConf(item map[string]string) string

func AddTier

func AddTier(item map[string]string, stats map[string]int, geneList, specVarDb map[string]bool, isTrio, isWGS, allGene bool, AFlist []string)

AddTier add tier to item

func CHgvsAlt added in v2.18.1

func CHgvsAlt(cHgvs string) string

func CheckAF added in v2.21.0

func CheckAF(item map[string]string, AFlist []string, threshold float64) bool

func CnvPrimer

func CnvPrimer(item map[string]string, cnvType string) (primer string)

CnvPrimer return 引物设计 for cnv

func ExonPrimer added in v2.15.0

func ExonPrimer(item map[string]string) (primer string, primerMap map[string]string)

ExonPrimer return 引物设计 for exon cnv

func FamilyTag

func FamilyTag(item map[string]string, inheritDb map[string]map[string]int, tag string) string

FamilyTag return familyTag

func FloatFormat

func FloatFormat(item map[string]string)

FloatFormat warp strconv.FormatFloat

func Format

func Format(item map[string]string)

Format format float and newline

func GetFromMultiKeys added in v2.19.0

func GetFromMultiKeys(db map[string]map[string]string, keys []string) (info map[string]string, hit bool)

GetFromMultiKeys loop keys, return info,hit

func GetKeys added in v2.19.0

func GetKeys(transcript, cHGVS string) (keys []string)

GetKeys get keys from transcript and cHGVS

func GetPath

func GetPath(key, dbPath string, config map[string]interface{}) (path string)

GetPath get path of key from config

func GetStrVal

func GetStrVal(key string, config map[string]interface{}) (val string)

GetStrVal get value ofkey from config

func GuessPath added in v2.2.0

func GuessPath(path, dbPath string) string

GuessPath guess path as abs path or relative path in dbPath

func InheritCheck

func InheritCheck(item map[string]string, inheritDb map[string]map[string]int)

InheritCheck count variants of gene

func InheritCoincide

func InheritCoincide(item map[string]string, inheritDb map[string]map[string]int, isTrio bool) string

InheritCoincide calculate 遗传相符

func InheritFrom

func InheritFrom(item map[string]string, sampleList []string) string

InheritFrom return 变异来源

func InheritFrom2

func InheritFrom2(item map[string]string, sampleList []string) string

InheritFrom2 for no strand proband-father-mother return 变异来源

func LargePrimer added in v2.15.0

func LargePrimer(item map[string]string) (primer string)

LargePrimer return 引物设计 for large cnv

func LoadGeneTrans

func LoadGeneTrans(fileName string)

LoadGeneTrans read geneSymbol.transcript.txt to two map

func NewlineFormat

func NewlineFormat(item map[string]string)

NewlineFormat warp strings.Replace

func ParseSpliceAI added in v2.5.1

func ParseSpliceAI(item map[string]string)

ParseSpliceAI parse and anno spliceAI result

func PrimerDesign

func PrimerDesign(item map[string]string) string

PrimerDesign return 引物设计

func Score2Pred

func Score2Pred(item map[string]string)

Score2Pred add _pred for scores

func UpdateAutoRule

func UpdateAutoRule(item map[string]string)

UpdateAutoRule update auto rules of acmg2015

func UpdateCnvAnnot

func UpdateCnvAnnot(geneLst, key string, item, gene2id map[string]string, geneDisDb map[string]map[string]string)

UpdateCnvAnnot update annot of cnv

func UpdateDisGenes

func UpdateDisGenes(
	sep string, genes []string,
	item, gene2id, geneDisDbCol map[string]string,
	geneDisDb map[string]map[string]string)

UpdateDisGenes add gene-disease info to item

func UpdateDisease

func UpdateDisease(geneID string, item, gDiseaseDbColumn map[string]string, gDiseaseDbs map[string]map[string]string)

UpdateDisease add disease info to item

func UpdateFuncRegion

func UpdateFuncRegion(item map[string]string)

UpdateFuncRegion Convert C* to CDS*

func UpdateFunction

func UpdateFunction(item map[string]string)

UpdateFunction convert intron to [splice+10,splice-10,splice+20,splice-20]

func UpdateGeneDb added in v2.8.0

func UpdateGeneDb(geneList string, item, geneDb map[string]string)

UpdateGeneDb annotate 突变频谱

func UpdateManualRule

func UpdateManualRule(item map[string]string)

UpdateManualRule update manualRuleName and manualExplaination

func UpdateRedis

func UpdateRedis(item map[string]string, db *redis.Client, keyPrefix string)

UpdateRedis update item from redis

func UpdateSnv

func UpdateSnv(item map[string]string, gender string)

UpdateSnv add info for all variant

func UpdateSnvTier1

func UpdateSnvTier1(item map[string]string)

UpdateSnvTier1 add other info for tier1 variant

func UpdateTags

func UpdateTags(item map[string]string, specVarDb map[string]bool, isTrio, isTrio2 bool) string

UpdateTags get Tags of item

func UpdateZygosity added in v2.9.8

func UpdateZygosity(item map[string]string, gender string)

UpdateZygosity format, fix hom and fix hemi

func ZygosityFormat added in v2.17.4

func ZygosityFormat(zygosity string) string

Types

type AnnoDb added in v2.8.0

type AnnoDb struct {
	File     string
	MainKey  string
	TitleKey []string
	Title    []string
	// contains filtered or unexported fields
}

func (*AnnoDb) Anno added in v2.8.0

func (db *AnnoDb) Anno(item map[string]string, key string)

func (*AnnoDb) Annos added in v2.11.0

func (db *AnnoDb) Annos(item map[string]string, sep string, keys []string)

func (*AnnoDb) Load added in v2.8.0

func (db *AnnoDb) Load(cfg *toml.Tree, dbPath string)

type EncodeDb added in v2.8.0

type EncodeDb struct {
	File     string
	MainKey  string
	TitleKey []string
	Title    []string

	Db map[string]map[string]string
	// contains filtered or unexported fields
}

EncodeDb encode json

func (*EncodeDb) Anno added in v2.8.0

func (db *EncodeDb) Anno(item map[string]string, key string) bool

func (*EncodeDb) AnnoMultiKey added in v2.20.0

func (db *EncodeDb) AnnoMultiKey(item map[string]string, keys []string) (ok bool)

func (*EncodeDb) Annos added in v2.8.0

func (db *EncodeDb) Annos(item map[string]string, sep string, keys []string)

func (*EncodeDb) Load added in v2.8.0

func (db *EncodeDb) Load(cfg *toml.Tree, dbPath string, codeKey []byte)

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