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grch38-liftover-chain-37-to-38-ensembl-v1
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public |
Liftover chain file from ensembl
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2025-03-25 |
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grch37-liftover-chain-38-to-37-ensembl-v1
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public |
Liftover chain file from ensembl
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2025-03-25 |
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grch37-hg002-svs-giab-v1
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public |
SV callset for the Ashkenazi trio son HG002 in grch37
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2025-03-25 |
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hg38-structural-variants-gnomad-ncbi-v1
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public |
SV callset 2.1 from gnomAD, lifted over to build 38 in NCBI. Remapped from Ensembl GRCh38 to UCSC hg38
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2025-03-25 |
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hg19-structural-variants-gnomad-v1
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public |
SV callset 2.1 from gnomAD. Remapped from Ensembl GRCh37 to UCSC hg19
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2025-03-25 |
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grch38-structural-variants-gnomad-ncbi-v1
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public |
SV callset 2.1 from gnomAD, lifted over to build 38 in NCBI
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2025-03-25 |
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grch37-structural-variants-gnomad-v1
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public |
SV callset 2.1 from gnomAD
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2025-03-25 |
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hg38-ccdg-sv-vcf-ccdg-v1
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public |
SV callset 2 from ccdg in hg38
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2025-03-25 |
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hg19-ccdg-sv-vcf-ccdg-v1
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public |
SV callset 2 from ccdg in hg19
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2025-03-25 |
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grch38-ccdg-sv-vcf-ccdg-v1
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public |
SV callset 2 from ccdg in grch38
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2025-03-25 |
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grch37-ccdg-sv-vcf-ccdg-v1
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public |
SV callset 2 from ccdg in grch37
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2025-03-25 |
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hg38-haploinsufficient-genes-dang-v1
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public |
CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from Dang et al. (2008): https://www.nature.com/articles/ejhg2008111. They used text-searching and database-mining on Pubmed and OMIM to extract an annotated list of human haploinsufficient genes, their associated diseases, and functions. Any genes in patch regions or non-reference scaffoldings are not included.
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2025-03-25 |
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hg38-haploinsufficient-genes-clingen-v1
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public |
CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from ClinGen's Dosage Sensitivity Map curated by Daniel MacArthur''s lab. The genes used are those that are haplosensitive and not triplosensitive, and are level 3 (the maximum level) dosage sensitive. Original work on this is part of the Cytogenomic Arrays Consortium. Paper at: 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008023/'. Any genes in patch regions or non-reference scaffoldings are not included.
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2025-03-25 |
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hg19-haploinsufficient-genes-dang-v1
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public |
CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from Dang et al. (2008): https://www.nature.com/articles/ejhg2008111. They used text-searching and database-mining on Pubmed and OMIM to extract an annotated list of human haploinsufficient genes, their associated diseases, and functions. Any genes in patch regions or non-reference scaffoldings are not included.
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2025-03-25 |
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hg19-haploinsufficient-genes-clingen-v1
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public |
CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from ClinGen's Dosage Sensitivity Map curated by Daniel MacArthur''s lab. The genes used are those that are haplosensitive and not triplosensitive, and are level 3 (the maximum level) dosage sensitive. Original work on this is part of the Cytogenomic Arrays Consortium. Paper at: 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008023/'. Any genes in patch regions or non-reference scaffoldings are not included.
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2025-03-25 |
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grch38-haploinsufficient-genes-dang-v1
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public |
CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from Dang et al. (2008): https://www.nature.com/articles/ejhg2008111. They used text-searching and database-mining on Pubmed and OMIM to extract an annotated list of human haploinsufficient genes, their associated diseases, and functions. Any genes in patch regions or non-reference scaffoldings are not included.
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2025-03-25 |
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grch38-haploinsufficient-genes-clingen-v1
|
public |
CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from ClinGen's Dosage Sensitivity Map curated by Daniel MacArthur''s lab. The genes used are those that are haplosensitive and not triplosensitive, and are level 3 (the maximum level) dosage sensitive. Original work on this is part of the Cytogenomic Arrays Consortium. Paper at: 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008023/'. Any genes in patch regions or non-reference scaffoldings are not included.
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2025-03-25 |
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grch37-haploinsufficient-genes-dang-v1
|
public |
CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from Dang et al. (2008): https://www.nature.com/articles/ejhg2008111. They used text-searching and database-mining on Pubmed and OMIM to extract an annotated list of human haploinsufficient genes, their associated diseases, and functions. Any genes in patch regions or non-reference scaffoldings are not included.
|
2025-03-25 |
|
grch37-haploinsufficient-genes-clingen-v1
|
public |
CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from ClinGen's Dosage Sensitivity Map curated by Daniel MacArthur''s lab. The genes used are those that are haplosensitive and not triplosensitive, and are level 3 (the maximum level) dosage sensitive. Original work on this is part of the Cytogenomic Arrays Consortium. Paper at: 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008023/'. Any genes in patch regions or non-reference scaffoldings are not included.
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2025-03-25 |
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hg19-reference-genome-gencode-v1
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public |
The GRCh37 DNA nucleotide sequence primary assembly. Sequence regions include reference chromsomes and scaffoldings. Mapped to hg19
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2025-03-25 |
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grch37-reference-genome-gencode-v1
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public |
The GRCh37 DNA nucleotide sequence primary assembly. Sequence regions include reference chromsomes and scaffoldings.
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2025-03-25 |
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hg38-heart-genes-sifrim-v1
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public |
CDS region genomic coordinates, along with complement coordinates, for a manually curated set of congenital heart disease (CHD) genes from Sifrim et al. (www.nature.com/articles/ng.3627). Used Supplemental Table 20 here: https://media.nature.com/original/nature-assets/ng/journal/v48/n9/extref/ng.3627-S13.xlsx
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2025-03-25 |
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hg38-eiee-genes-ostrander-v1
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public |
CDS region genomic coordinates, along with complement coordinates, for a set of eiee genes. The eiee gene set comes from a paper on EIEE (Early Infantile Epileptic Encephalopathy) a severe, fatal epileptic syndrome that occurs within the first few months of life. The gene set is a compilation of gene sets from a few different companies, gene panels, as well as one from the U of Chicago. Paper at: https://www.nature.com/articles/s41525-018-0061-8
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2025-03-25 |
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hg19-heart-genes-sifrim-v1
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public |
CDS region genomic coordinates, along with complement coordinates, for a manually curated set of congenital heart disease (CHD) genes from Sifrim et al. (www.nature.com/articles/ng.3627). Used Supplemental Table 20 here: https://media.nature.com/original/nature-assets/ng/journal/v48/n9/extref/ng.3627-S13.xlsx
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2025-03-25 |
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hg19-eiee-genes-ostrander-v1
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public |
CDS region genomic coordinates, along with complement coordinates, for a set of eiee genes. The eiee gene set comes from a paper on EIEE (Early Infantile Epileptic Encephalopathy) a severe, fatal epileptic syndrome that occurs within the first few months of life. The gene set is a compilation of gene sets from a few different companies, gene panels, as well as one from the U of Chicago. Paper at: https://www.nature.com/articles/s41525-018-0061-8
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2025-03-25 |
