Summary	GPF-SFARI Production Annotation Pipeline
Description	This is the pipeline used in the GPF-SFARI instance.
Input reference genome	hg38/genomes/GRCh38-hg38

phyloP100way

Type: phyloP100way

The score is a number that reflects the conservation at a position.

position_aggregator: mean [default]

source: phyloP100way

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

Resource

Id: hg38/scores/phyloP100way

Type: position_score

Summary:

Conservation score based on the multiple alignment of 100 species

phyloP30way

Type: phyloP30way

The score is a number that reflects the conservation at a position.

position_aggregator: mean [default]

source: phyloP30way

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

Resource

Id: hg38/scores/phyloP30way

Type: position_score

Summary:

Conservation score based on the multiple alignment of 30 species

phyloP20way

Type: phyloP20way

The score is a number that reflects the conservation at a position.

position_aggregator: mean [default]

source: phyloP20way

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

Resource

Id: hg38/scores/phyloP20way

Type: position_score

Summary:

Conservation score based on the multiple alignment of 20 species

phyloP7way

Type: phyloP7way

The score is a number that reflects the conservation at a position.

position_aggregator: mean [default]

source: phyloP7way

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

Resource

Id: hg38/scores/phyloP7way

Type: position_score

Summary:

Conservation score based on the multiple alignment of 7 species

phastCons100way

Type: phastCons100way

The score is a number that reflects the conservation at a position.

position_aggregator: mean [default]

source: phastCons100way

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

Resource

Id: hg38/scores/phastCons100way

Type: position_score

Summary:

Conservation score based on the multiple alignment of 100 species

phastCons30way

Type: phastCons30way

The score is a number that reflects the conservation at a position.

position_aggregator: mean [default]

source: phastCons30way

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

Resource

Id: hg38/scores/phastCons30way

Type: position_score

Summary:

Conservation score based on the multiple alignment of 30 species

phastCons20way

Type: phastCons20way

The score is a number that reflects the conservation at a position.

position_aggregator: mean [default]

source: phastCons20way

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

Resource

Id: hg38/scores/phastCons20way

Type: position_score

Summary:

Conservation score based on the multiple alignment of 20 species

phastCons7way

Type: phastCons7way

The score is a number that reflects the conservation at a position.

position_aggregator: mean [default]

source: phastCons7way

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

Resource

Id: hg38/scores/phastCons7way

Type: position_score

Summary:

Conservation score based on the multiple alignment of 7 species

cadd_raw

Type: cadd_raw

CADD raw score for functional prediction of a SNP. The larger the score the more likely the SNP has damaging effect

position_aggregator: mean [default]

nucleotide_aggregator: max [default]

source: cadd_raw

cadd_phred

Type: cadd_phred

CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores. The larger the score the more likely the SNP has damaging effect.

position_aggregator: mean [default]

nucleotide_aggregator: max [default]

source: cadd_phred

Annotator type: np_score

Annotator to use with genomic scores depending on genomic position and nucleotide change like CADD, MPC, etc.

More info

Resource

Id: hg38/scores/CADD_v1.4

Type: np_score

Summary:

CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP

hg19_annotatable

Type: annotatable (Internal)

Lifted over allele.

source: liftover_annotatable

Annotator type: liftover_annotator

Annotator to lift over a variant from one reference genome to another.

More info

Resource

Id: liftover/hg38ToHg19

Type: liftover_chain

Summary:

Liftover Chain Hg38 to Hg19

Resource

Id: hg38/genomes/GRCh38-hg38

Type: genome

Summary:

HG38 reference genome

Resource

Id: hg19/genomes/GATK_ResourceBundle_5777_b37_phiX174

Type: genome

Summary:

HG19 reference genome

fitcons_i6_merged

Type: fitcons_i6_merged

probability that a point mutation at each position in a genome will influence fitness

position_aggregator: mean [default]

source: fc_i6_score

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons-i6-merged

Type: position_score

Summary:

fitCons (fitness consequences) score estimates selective pressure on genomic positions.

linsight

Type: linsight

The LINSIGHT score measures the probability of negative selection on noncoding sites.

position_aggregator: mean [default]

source: Linsight

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/Linsight

Type: position_score

Summary:

LINSIGHT score quantifies the likelihood of negative selection on noncoding sites.

fitcons2_e067

Type: fitcons2_e067

The scores is the probability for a mutation to have a fitenss consequence.

position_aggregator: mean [default]

source: FitCons2_E067

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E067

Type: position_score

Summary:

Cell-type specific FitCons scores for Brain Angular Gyrus tissue (E067).

fitcons2_e068

Type: fitcons2_e068

The scores is the probability for a mutation to have a fitenss consequence.

position_aggregator: mean [default]

source: FitCons2_E068

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E068

Type: position_score

Summary:

Cell-type specific FitCons scores for Brain Anterior Caudate tissue (E068).

fitcons2_e069

Type: fitcons2_e069

The scores is the probability for a mutation to have a fitenss consequence.

position_aggregator: mean [default]

source: FitCons2_E069

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E069

Type: position_score

Summary:

Cell-type specific FitCons scores for Brain Cingulate Gyrus tissue (E069).

fitcons2_e070

Type: fitcons2_e070

The scores is the probability for a mutation to have a fitenss consequence.

position_aggregator: mean [default]

source: FitCons2_E070

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E070

Type: position_score

Summary:

Cell-type specific FitCons scores for Brain Germinal Matrix tissue (E070).

fitcons2_e071

Type: fitcons2_e071

The scores is the probability for a mutation to have a fitenss consequence.

position_aggregator: mean [default]

source: FitCons2_E071

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E071

Type: position_score

Summary:

Cell-type specific FitCons scores for Brain Hippocampus Middle tissue (E071).

fitcons2_e072

Type: fitcons2_e072

The scores is the probability for a mutation to have a fitenss consequence.

position_aggregator: mean [default]

source: FitCons2_E072

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E072

Type: position_score

Summary:

Cell-type specific FitCons scores for Brain Inferior Temporal Lobe tissue (E072).

fitcons2_e073

Type: fitcons2_e073

The scores is the probability for a mutation to have a fitenss consequence.

position_aggregator: mean [default]

source: FitCons2_E073

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E073

Type: position_score

Summary:

FitCons2 score computed for the Brain Dorsolateral Prefrontal Cortex (E073) tissue.

fitcons2_e074

Type: fitcons2_e074

The scores is the probability for a mutation to have a fitenss consequence.

position_aggregator: mean [default]

source: FitCons2_E074

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E074

Type: position_score

Summary:

Cell-type specific FitCons scores for Brain Substantia Nigra tissue (E074).

fitcons2_e081

Type: fitcons2_e081

The scores is the probability for a mutation to have a fitness consequence.

position_aggregator: mean [default]

source: FitCons2_E081

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E081

Type: position_score

Summary:

Cell-type specific FitCons scores for Fetal Brain Male tissue (E081).

fitcons2_e082

Type: fitcons2_e082

The scores is the probability for a mutation to have a fitenss consequence.

position_aggregator: mean [default]

source: FitCons2_E082

Annotator type: position_score

Annotator to use with genomic scores depending on genomic position like phastCons, phyloP, FitCons2, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/FitCons2_E082

Type: position_score

Summary:

Cell-type specific FitCons scores for Fetal Brain Female tissue (E082).

mpc

Type: mpc

Missense badness, PolyPhen-2, and Constraint. A deleteriousness prediction score for missense variants"

position_aggregator: mean [default]

nucleotide_aggregator: max [default]

source: MPC

Annotator type: np_score

Annotator to use with genomic scores depending on genomic position and nucleotide change like CADD, MPC, etc.

More info

input_annotatable: hg19_annotatable

Resource

Id: hg19/scores/MPC

Type: np_score

Summary:

MPC (Missense badness, PolyPhen-2, and Constraint) is a composite score that predicts the impact of missense variants.

normalized_allele

Type: annotatable (Internal)

Normalized allele.

source: normalized_allele

Annotator type: normalize_allele_annotator

No description

Resource

Id: hg38/genomes/GRCh38-hg38

Type: genome

Summary:

HG38 reference genome

ssc_freq

Type: ssc_freq

SFARI SSC WGS CSHL allele frequency in %

position_aggregator: mean [default]

allele_aggregator: max [default]

source: allele_frequency

Annotator type: allele_score

Annotator to use with scores that depend on allele like variant frequencies, etc.

More info

Resource

Id: hg38/variant_frequencies/SSC_WG38_CSHL_2380

Type: allele_score

Summary:

Exported from SFARI_SSC_WGS_CSHL using `gpf_validation_data/data_hg38/exports/SFARI_SSC_WGS_CSHL_frequency`.

exome_gnomad_v2_1_1_af_percent

Type: exome_gnomad_v2_1_1_af_percent

Alternative allele frequency in the whole gnomAD exome samples v2.1.1 as %

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AF_percent

exome_gnomad_v2_1_1_ac

Type: exome_gnomad_v2_1_1_ac

Alternative allele count in the whole gnomAD exome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AC

exome_gnomad_v2_1_1_af

Type: exome_gnomad_v2_1_1_af

Alternative allele frequency in the whole gnomAD exome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AF

exome_gnomad_v2_1_1_an

Type: exome_gnomad_v2_1_1_an

Total allele count in the whole gnomAD exome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AN

exome_gnomad_v2_1_1_controls_ac

Type: exome_gnomad_v2_1_1_controls_ac

Alternative allele count in the controls subset of whole gnomAD exome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: controls_AC

exome_gnomad_v2_1_1_controls_an

Type: exome_gnomad_v2_1_1_controls_an

gnomAD v2.1.1 liftover exomes count of genotyped individuals in control group

position_aggregator: mean [default]

allele_aggregator: max [default]

source: controls_AN

exome_gnomad_v2_1_1_non_neuro_ac

Type: exome_gnomad_v2_1_1_non_neuro_ac

Alternative allele count in the non-neuro subset of whole gnomAD exome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: non_neuro_AC

exome_gnomad_v2_1_1_non_neuro_an

Type: exome_gnomad_v2_1_1_non_neuro_an

Total allele count in the non-neuro subset of whole gnomAD exome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: non_neuro_AN

exome_gnomad_v2_1_1_controls_af_percent

Type: exome_gnomad_v2_1_1_controls_af_percent

Alternative allele frequency in the controls subset of whole gnomAD exome samples v2.1.1 as %

position_aggregator: mean [default]

allele_aggregator: max [default]

source: controls_AF_percent

exome_gnomad_v2_1_1_non_neuro_af_percent

Type: exome_gnomad_v2_1_1_non_neuro_af_percent

Alternative allele frequency in the non-neuro subset of whole gnomAD exome samples v2.1.1 as %

position_aggregator: mean [default]

allele_aggregator: max [default]

source: non_neuro_AF_percent

Annotator type: allele_score

Annotator to use with scores that depend on allele like variant frequencies, etc.

More info

input_annotatable: normalized_allele

Resource

Id: hg38/variant_frequencies/gnomAD_v2.1.1_liftover/exomes

Type: allele_score

Summary:

Liftover of gnomAD exomes v2.1.1 to hg38.

genome_gnomad_v2_1_1_af_percent

Type: genome_gnomad_v2_1_1_af_percent

Alternative allele frequency in the whole gnomAD genome samples v2.1.1 as %

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AF_percent

genome_gnomad_v2_1_1_ac

Type: genome_gnomad_v2_1_1_ac

Alternative allele count in the whole gnomAD genome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AC

genome_gnomad_v2_1_1_af

Type: genome_gnomad_v2_1_1_af

Alternative allele frequency in the whole gnomAD genome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AF

genome_gnomad_v2_1_1_an

Type: genome_gnomad_v2_1_1_an

Total allele count in the whole gnomAD genome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AN

genome_gnomad_v2_1_1_controls_ac

Type: genome_gnomad_v2_1_1_controls_ac

Alternative allele count in the controls subset of whole gnomAD genome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: controls_AC

genome_gnomad_v2_1_1_controls_an

Type: genome_gnomad_v2_1_1_controls_an

gnomAD v2.1.1 liftover genome count of genotyped individuals in control group

position_aggregator: mean [default]

allele_aggregator: max [default]

source: controls_AN

genome_gnomad_v2_1_1_non_neuro_ac

Type: genome_gnomad_v2_1_1_non_neuro_ac

Alternative allele count in the non-neuro subset of whole gnomAD genome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: non_neuro_AC

genome_gnomad_v2_1_1_non_neuro_an

Type: genome_gnomad_v2_1_1_non_neuro_an

Total allele count in the non-neuro subset of whole gnomAD genome samples v2.1.1

position_aggregator: mean [default]

allele_aggregator: max [default]

source: non_neuro_AN

genome_gnomad_v2_1_1_controls_af_percent

Type: genome_gnomad_v2_1_1_controls_af_percent

Alternative allele frequency in the controls subset of whole gnomAD genome samples v2.1.1 as %

position_aggregator: mean [default]

allele_aggregator: max [default]

source: controls_AF_percent

genome_gnomad_v2_1_1_non_neuro_af_percent

Type: genome_gnomad_v2_1_1_non_neuro_af_percent

Alternative allele frequency in the non-neuro subset of whole gnomAD genome samples v2.1.1 as %

position_aggregator: mean [default]

allele_aggregator: max [default]

source: non_neuro_AF_percent

Annotator type: allele_score

Annotator to use with scores that depend on allele like variant frequencies, etc.

More info

input_annotatable: normalized_allele

Resource

Id: hg38/variant_frequencies/gnomAD_v2.1.1_liftover/genomes

Type: allele_score

Summary:

Liftover of gnomAD genomes v2.1.1 to hg38.

genome_gnomad_v3_af_percent

Type: genome_gnomad_v3_af_percent

Alternative allele frequency represented as a percent in the all gnomAD v3.0 genome samples.

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AF_percent

genome_gnomad_v3_ac

Type: genome_gnomad_v3_ac

Number of alternative alleles in the all gnomAD v3.0 genome samples.

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AC

genome_gnomad_v3_an

Type: genome_gnomad_v3_an

Number of genotyped individuals in the all gnomAD v3.0 genome samples.

position_aggregator: mean [default]

allele_aggregator: max [default]

source: AN

Annotator type: allele_score

Annotator to use with scores that depend on allele like variant frequencies, etc.

More info

input_annotatable: normalized_allele

Resource

Id: hg38/variant_frequencies/gnomAD_v3/genomes

Type: allele_score

Summary:

gnomAD v3.0 variants built from ~150,000 samples with whole genome sequence data.

Id:	pipeline/GPF-SFARI_annotation
Type:	annotation_pipeline
Version:	0
Summary:
Description:
Labels:

Filename	Size	md5
GPF-SFARI_annotation.yaml	2.67 KB	c3f510c0a0fc48eaa289edee293463d9
genomic_resource.yaml	232.0 B	ef3a0a26a02c613fe081d1c681d5ce73
statistics/

Resource

Pipeline Documentation

preamble

Annotators

Files