cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.29423318.v1
title: Analysis of 470,000 exome-sequenced UK biobank participants identifies genes containing rare variants which confer dementia risk

description: Previous studies have reported that rare coding variants in a handful of genes have major effects on risk of Alzheimer’s disease (AD). A recent exome wide association study (ExWAS) of dementia in a subset of the UK Biobank cohort implicated a number of genes, including five which were novel. Here we report a similar analysis, carried out on the full cohort of 470,000 exome-sequenced participants. A score was assigned to each participant depending on individual and/or parental diagnosis of dementia. Regression analysis including <i>APOE</i> ε3 and ε4 doses as covariates was applied to gene-wise tests for association with loss of function (LOF) and nonsynonymous variants. 45 tests using different pathogenicity predictors were applied to the first cohort of 200,000 participants. Subsequently the 100 genes showing strongest evidence for association were analysed in the second cohort of 270,000 participants, using only the best-performing predictor for each gene. Three genes achieved statistical significance, <i>TREM2</i>, <i>SORL1</i> and <i>ABCA7</i>. The five genes reported as novel in the ExWAS did not produce any appreciable evidence for association in this study. The effects and frequencies of variants in different functional categories were characterised for these genes. Rare coding variants in a small number of genes have important effects on dementia risk. Further study of individual variant effects might elucidate mechanisms of pathogenesis. Incorporating rare variant effects for individual risk assessment might become important if preventative treatments for dementia become available. This research has been conducted using the UK Biobank Resource.
DOI: 10.6084/m9.figshare.29083092
title: Impact of gene-gene interactions in Progressive Supranuclear Palsy: new genetic perspectives in the Asian-Indian population

description: Genes play an important role in the risk of Progressive Supranuclear Palsy (PSP). Some of the major risk genes identified for PSP include <i>MAPT</i>, <i>STX6</i>, <i>MOBP</i>, and <i>EIF2AK3</i> in several ethnic groups. However, the interactions among these genes have not been explored in PSP. Therefore, this prospective case-control study aimed to explore the impact of gene-gene interactions in patients with PSP (n = 106) and healthy subjects (n = 109) of Indian ethnicity. Eight single nucleotide polymorphisms (SNPs) of <i>MAPT</i> gene (rs1467967, rs242557, rs3785883, rs2471738, rs8070723, rs7521, rs12185268, and rs62063857, and two SNPs of <i>STX6</i> gene (rs3747957 and rs1411478), one SNP each from <i>MOBP</i> (rs1768208) and <i>EIF2AK3</i> (rs7571971) genes were genotyped by TaqMan Alleleic Discrimination Assay in all the study participants. Gene-gene interactions among these 12 SNPs were performed using the multi-dimensionality reduction (MDR) test. The combination of SNPs from the <i>MAPT</i> gene (rs1467967, rs242557, rs3785883), along with <i>STX6</i> (rs1411478) and <i>MOBP</i> (rs1768208), appeared to be the best five-locus model (<i>p</i> &lt; 0.001), suggesting strong interactions among <i>MAPT</i>, <i>STX6</i> and <i>MOBP</i> genes in modulating the risk of PSP. Strong synergistic interactions were observed within <i>MAPT</i> gene (rs1467967, rs244557, rs3785883, rs7521, and rs2471738), and between <i>MAPT</i> (rs7521) and <i>MOBP</i> (rs1768208). Additionally, moderately strong synergistic interactions were found between (i) <i>MOBP</i> (rs1768208) and <i>STX6</i> (rs1411478), and (ii) <i>MOBP</i> (rs1768208) and <i>MAPT</i> (rs3785883) genes. The findings of this study suggest significant impact of gene-gene interactions amongst <i>MAPT</i>, <i>STX6</i>, and <i>MOBP</i> genes in modulating the risk of PSP. This implies that epistatic interactions might constitute an important mechanism in delineating the genetic basis of PSP.
DOI: 10.6084/m9.figshare.29083092.v1
title: Impact of gene-gene interactions in Progressive Supranuclear Palsy: new genetic perspectives in the Asian-Indian population

description: Genes play an important role in the risk of Progressive Supranuclear Palsy (PSP). Some of the major risk genes identified for PSP include <i>MAPT</i>, <i>STX6</i>, <i>MOBP</i>, and <i>EIF2AK3</i> in several ethnic groups. However, the interactions among these genes have not been explored in PSP. Therefore, this prospective case-control study aimed to explore the impact of gene-gene interactions in patients with PSP (n = 106) and healthy subjects (n = 109) of Indian ethnicity. Eight single nucleotide polymorphisms (SNPs) of <i>MAPT</i> gene (rs1467967, rs242557, rs3785883, rs2471738, rs8070723, rs7521, rs12185268, and rs62063857, and two SNPs of <i>STX6</i> gene (rs3747957 and rs1411478), one SNP each from <i>MOBP</i> (rs1768208) and <i>EIF2AK3</i> (rs7571971) genes were genotyped by TaqMan Alleleic Discrimination Assay in all the study participants. Gene-gene interactions among these 12 SNPs were performed using the multi-dimensionality reduction (MDR) test. The combination of SNPs from the <i>MAPT</i> gene (rs1467967, rs242557, rs3785883), along with <i>STX6</i> (rs1411478) and <i>MOBP</i> (rs1768208), appeared to be the best five-locus model (<i>p</i> &lt; 0.001), suggesting strong interactions among <i>MAPT</i>, <i>STX6</i> and <i>MOBP</i> genes in modulating the risk of PSP. Strong synergistic interactions were observed within <i>MAPT</i> gene (rs1467967, rs244557, rs3785883, rs7521, and rs2471738), and between <i>MAPT</i> (rs7521) and <i>MOBP</i> (rs1768208). Additionally, moderately strong synergistic interactions were found between (i) <i>MOBP</i> (rs1768208) and <i>STX6</i> (rs1411478), and (ii) <i>MOBP</i> (rs1768208) and <i>MAPT</i> (rs3785883) genes. The findings of this study suggest significant impact of gene-gene interactions amongst <i>MAPT</i>, <i>STX6</i>, and <i>MOBP</i> genes in modulating the risk of PSP. This implies that epistatic interactions might constitute an important mechanism in delineating the genetic basis of PSP.
DOI: 10.15468/dl.3cuedj
title: Occurrence Download

description: A dataset containing 52456 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Country is Colombia",
 "Geometry POLYGON((-74.53 5.43,-72.43 5.43,-72.43 8.13,-74.53 8.13,-74.53 5.43))",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "OccurrenceStatus is Present",
 "TaxonKey is Fungi"
 ]
}

 The dataset includes 52456 records from 116 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0019902-250827131500795/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.5r6gjw
title: Occurrence Download

description: A dataset containing 1658 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Issue is one of (Coordinate out of range, Coordinate rounded, Geodetic datum invalid, Geodetic datum assumed WGS84, Coordinate reprojected, Coordinate reprojection failed, Coordinate reprojection suspicious, Coordinate accuracy invalid, Coordinate precision/uncertainty mismatch, Footprint SRS invalid, Footprint WKT mismatch, Footprint WKT invalid, Country mismatch, Country derived from coordinates, Continent country mismatch, Continent derived from country, Continent derived from coordinates, Presumed swapped coordinate, Presumed negated longitude, Presumed negated latitude, Recorded date mismatch, Recorded date invalid, Recorded date unlikely, Taxon match fuzzy, Taxon match higher rank, Taxon match aggregate, The scientific name ID was not used in backbone matching, The taxon concept ID was not used in backbone matching, The taxon ID was not used in backbone matching, The scientific name ID was not found in the checklist, The taxon concept ID was not found in the checklist, The taxon ID was not found in the checklist, The scientific name differs on the record from that found in the checklist, Taxon match none, The backbone match found using the taxon IDs differs from what would be found if using the scientific names, Depth not metric, Depth unlikely, Depth min max swapped, Depth non numeric, Elevation unlikely, Elevation min max swapped, Elevation not metric, Elevation non numeric, Modified date invalid, Modified date unlikely, Identified date unlikely, Identified date invalid, Basis of record invalid, Type status invalid, Multimedia date invalid, Multimedia URI invalid, References URI invalid, Error during interpretation, Individual count invalid, Individual count conflicts with occurrence status, Occurrence status unparsable, Occurrence status inferred from individual count, Occurrence status inferred from basis of record, Georeferenced date unlikely, Georeferenced date invalid, Ambiguous institution, Ambiguous collection, Institution match none, Collection match none, Institution match fuzzy, Collection match fuzzy, Institution collection mismatch, Possibly on loan, Different owner institution)",
 "TaxonKey is Polyodon spathula"
 ]
}

 The dataset includes 1658 records from 78 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0019928-250827131500795/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.5c93t3
title: Occurrence Download

description: A dataset containing 215 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is one of (Panisus michaeli, Acentrella, Baetis, Dugesia, Adenophlebia, Aprionyx, Castanophlebia, Choroterpes, Ephemerellina, Lestagella, Ferrissia, Lumbriculus, , Platycyclops, Prostoma, Psychoda alternata, Psychoda, Chironomus, Culex, Trithemis, Tubifex, Dero, Baetis harrisoni, Simulium, Pseudagrion, Laccocoris limigenus, Laccocoris, Micronecta piccanin, Micronecta, Micronecta scutellaris, Pisidium, Plea pullula, Potamon, Sigara sjoestedti, Sigara, Austrocaenis, Burnupia, Centroptilum, Cloeon, Cloeon crassi, Crocothemis erythraea, Crocothemis, Enithares sobria, Enithares, Yola subopaca, Yola, Ecnomus, Anisops aglaia, Anisops, Anisops gracilis, Aulonogyrus, Bulinus, Guignotus, Gyraulus, Ischnura senegalensis, Ischnura, Laccophilus cyclopis, Physa, Potamonectes, Sharphydrus coriaceus, Sharphydrus, Sigara meridionalis, Simulium ruficorne, Adenophlebia peringueyella, Aphanicercella, Aphanicercopsis, Athripsodes, Castanophlebia calida, Centroptiloides bifasciatum, Centroptiloides, Cheumatopsyche maculata, Leptonema, Cheumatopsyche, Chimarra, Hydroptila, Lithogloea, Macronema, Neoperla spio, Neoperla, Pseudocloeon, Pseudocloeon vinosum, Anax imperator, Anax, Bulinus tropicus, Cybister, Herophydrus oscillator, Lymnaea, Orthetrum, Pseudagrion massaicum, Pyrgophysa, Sphaerodema capensis, Appasus, Succinea, Cheumatopsyche afra, Acroperus harpae, Acroperus, Aedes, Afroeubria, Afronurus, Alluaudomyia)",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "BasisOfRecord is one of (Specimen, Living Specimen, Observation, Human Observation, Machine Observation, Material sample, Literature Occurrence, Material citation, Occurrence evidence)",
 "Geometry POLYGON ((15.4784 -23.4046,15.4933 -24.0715,20.509 -24.0715,20.509 -24.0455,20.0952 -23.5072,19.9968 -23.017,19.7843 -22.5405,19.1988 -21.8785,18.5972 -21.5447,17.8859 -21.3993,17.1626 -21.4805,16.5332 -21.7596,16.1257 -22.0882,15.8234 -22.4662,15.606 -22.8993,15.4784 -23.4046))"
 ]
}

 The dataset includes 215 records from 11 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0019927-250827131500795/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.557epv
title: Occurrence Download

description: A dataset containing 77 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Nansenia oblita"
 ]
}

 The dataset includes 77 records from 23 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0019930-250827131500795/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.8zu8pq
title: Occurrence Download

description: A dataset containing 3002484449 species occurrences available in GBIF matching the query:
{
 "Year" : [
 "1970-2025"
 ]
}

 The dataset includes 3002484449 records from 66355 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0019209-250827131500795/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.ms5a8k
title: Occurrence Download

description: A dataset containing 0 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Symphyotrichum subulatum",
 "Country is Morocco",
 "HasCoordinate is true"
 ]
}

 The dataset includes 0 records from 0 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0019932-250827131500795/datasets/export for details.
DOI: 10.15468/dl.d47ksg
title: Occurrence Download

description: A dataset containing 17855 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Aquila fasciata",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Geometry POLYGON ((-6.6 29.26705, -6.6 50.94, 40.81373 50.94, 40.81373 29.26705, -6.6 29.26705))",
 "BasisOfRecord is one of (Human Observation, Machine Observation, Observation, Material sample)"
 ]
}

 The dataset includes 17855 records from 34 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0019861-250827131500795/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15156/bio/th047474
title: TH047474
title: Triquetrella

description: Here we present the novel 'taxon hypothesis' (TH) concept to accommodate fungal 'species hypothesis' (SH) into existing classification frameworks for taxonomic communication. As supplied with Digital Object Identifiers (DOIs), THs are flexible in time and enable direct cross-communication of higher level taxa along with evolving classification schemes. Every TH includes given number of SHs and consequently fixed number of fungal rDNA ITS sequences. DNA sequences generated by High-throughput or Sanger sequencing studies and identified against UNITE SHs will be automatically assigned to THs as well.
DOI: 10.15156/bio/sh1247333.08fu
title: SH1247333.08FU

description: UNITE provides a unified way for delimiting, identifying, communicating, and working with DNA-based Species Hypotheses (SH). All fungal ITS sequences in the international nucleotide sequence databases are clustered to approximately the species level by applying a set of dynamic distance values (<0.5 - 3.0%). All species hypotheses are given a unique, stable name in the form of a DOI, and their taxonomic and ecological annotations are verified through distributed, web-based third-party annotation efforts. SHs are connected to a taxon name and its classification as far as possible (phylum, class, order, etc.) by taking into account identifications for all sequences in the SH. An automatically or manually designated sequence is chosen to represent each such SH. These sequences are released (https://unite.ut.ee/repository.php) for use by the scientific community in, for example, local sequence similarity searches and next-generation sequencing analysis pipelines. The system and the data are updated automatically as the number of public fungal ITS sequences grows.
DOI: 10.15156/bio/sh1247334.08fu
title: SH1247334.08FU

description: UNITE provides a unified way for delimiting, identifying, communicating, and working with DNA-based Species Hypotheses (SH). All fungal ITS sequences in the international nucleotide sequence databases are clustered to approximately the species level by applying a set of dynamic distance values (<0.5 - 3.0%). All species hypotheses are given a unique, stable name in the form of a DOI, and their taxonomic and ecological annotations are verified through distributed, web-based third-party annotation efforts. SHs are connected to a taxon name and its classification as far as possible (phylum, class, order, etc.) by taking into account identifications for all sequences in the SH. An automatically or manually designated sequence is chosen to represent each such SH. These sequences are released (https://unite.ut.ee/repository.php) for use by the scientific community in, for example, local sequence similarity searches and next-generation sequencing analysis pipelines. The system and the data are updated automatically as the number of public fungal ITS sequences grows.
DOI: 10.15156/bio/sh1247335.08fu
title: SH1247335.08FU

description: UNITE provides a unified way for delimiting, identifying, communicating, and working with DNA-based Species Hypotheses (SH). All fungal ITS sequences in the international nucleotide sequence databases are clustered to approximately the species level by applying a set of dynamic distance values (<0.5 - 3.0%). All species hypotheses are given a unique, stable name in the form of a DOI, and their taxonomic and ecological annotations are verified through distributed, web-based third-party annotation efforts. SHs are connected to a taxon name and its classification as far as possible (phylum, class, order, etc.) by taking into account identifications for all sequences in the SH. An automatically or manually designated sequence is chosen to represent each such SH. These sequences are released (https://unite.ut.ee/repository.php) for use by the scientific community in, for example, local sequence similarity searches and next-generation sequencing analysis pipelines. The system and the data are updated automatically as the number of public fungal ITS sequences grows.
DOI: 10.15156/bio/th047475
title: TH047475
title: Streblotrichum

description: Here we present the novel 'taxon hypothesis' (TH) concept to accommodate fungal 'species hypothesis' (SH) into existing classification frameworks for taxonomic communication. As supplied with Digital Object Identifiers (DOIs), THs are flexible in time and enable direct cross-communication of higher level taxa along with evolving classification schemes. Every TH includes given number of SHs and consequently fixed number of fungal rDNA ITS sequences. DNA sequences generated by High-throughput or Sanger sequencing studies and identified against UNITE SHs will be automatically assigned to THs as well.
DOI: 10.15156/bio/th047476
title: TH047476
title: Gymnobarbula

description: Here we present the novel 'taxon hypothesis' (TH) concept to accommodate fungal 'species hypothesis' (SH) into existing classification frameworks for taxonomic communication. As supplied with Digital Object Identifiers (DOIs), THs are flexible in time and enable direct cross-communication of higher level taxa along with evolving classification schemes. Every TH includes given number of SHs and consequently fixed number of fungal rDNA ITS sequences. DNA sequences generated by High-throughput or Sanger sequencing studies and identified against UNITE SHs will be automatically assigned to THs as well.
DOI: 10.15156/bio/sh1247336.08fu
title: SH1247336.08FU

description: UNITE provides a unified way for delimiting, identifying, communicating, and working with DNA-based Species Hypotheses (SH). All fungal ITS sequences in the international nucleotide sequence databases are clustered to approximately the species level by applying a set of dynamic distance values (<0.5 - 3.0%). All species hypotheses are given a unique, stable name in the form of a DOI, and their taxonomic and ecological annotations are verified through distributed, web-based third-party annotation efforts. SHs are connected to a taxon name and its classification as far as possible (phylum, class, order, etc.) by taking into account identifications for all sequences in the SH. An automatically or manually designated sequence is chosen to represent each such SH. These sequences are released (https://unite.ut.ee/repository.php) for use by the scientific community in, for example, local sequence similarity searches and next-generation sequencing analysis pipelines. The system and the data are updated automatically as the number of public fungal ITS sequences grows.
DOI: 10.15156/bio/sh1247337.08fu
title: SH1247337.08FU

description: UNITE provides a unified way for delimiting, identifying, communicating, and working with DNA-based Species Hypotheses (SH). All fungal ITS sequences in the international nucleotide sequence databases are clustered to approximately the species level by applying a set of dynamic distance values (<0.5 - 3.0%). All species hypotheses are given a unique, stable name in the form of a DOI, and their taxonomic and ecological annotations are verified through distributed, web-based third-party annotation efforts. SHs are connected to a taxon name and its classification as far as possible (phylum, class, order, etc.) by taking into account identifications for all sequences in the SH. An automatically or manually designated sequence is chosen to represent each such SH. These sequences are released (https://unite.ut.ee/repository.php) for use by the scientific community in, for example, local sequence similarity searches and next-generation sequencing analysis pipelines. The system and the data are updated automatically as the number of public fungal ITS sequences grows.
DOI: 10.15156/bio/th047477
title: TH047477
title: Pleuroziopsis

description: Here we present the novel 'taxon hypothesis' (TH) concept to accommodate fungal 'species hypothesis' (SH) into existing classification frameworks for taxonomic communication. As supplied with Digital Object Identifiers (DOIs), THs are flexible in time and enable direct cross-communication of higher level taxa along with evolving classification schemes. Every TH includes given number of SHs and consequently fixed number of fungal rDNA ITS sequences. DNA sequences generated by High-throughput or Sanger sequencing studies and identified against UNITE SHs will be automatically assigned to THs as well.
DOI: 10.15156/bio/th047478
title: TH047478
title: Hedwigia

description: Here we present the novel 'taxon hypothesis' (TH) concept to accommodate fungal 'species hypothesis' (SH) into existing classification frameworks for taxonomic communication. As supplied with Digital Object Identifiers (DOIs), THs are flexible in time and enable direct cross-communication of higher level taxa along with evolving classification schemes. Every TH includes given number of SHs and consequently fixed number of fungal rDNA ITS sequences. DNA sequences generated by High-throughput or Sanger sequencing studies and identified against UNITE SHs will be automatically assigned to THs as well.
DOI: 10.15156/bio/th047479
title: TH047479
title: Braunia

description: Here we present the novel 'taxon hypothesis' (TH) concept to accommodate fungal 'species hypothesis' (SH) into existing classification frameworks for taxonomic communication. As supplied with Digital Object Identifiers (DOIs), THs are flexible in time and enable direct cross-communication of higher level taxa along with evolving classification schemes. Every TH includes given number of SHs and consequently fixed number of fungal rDNA ITS sequences. DNA sequences generated by High-throughput or Sanger sequencing studies and identified against UNITE SHs will be automatically assigned to THs as well.
DOI: 10.25549/one-c4-46996
title: Posters and graphic materials