Sequencing Initiative Suomi
Names
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Sequencing Initiative Suomi
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
SISu
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Sequencing Initiative Suomi (SISu)
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.504244
Sequencing_Initiative_Suomi_SISu
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.504244
Names
More detailed information about this field from each metasource.
Sequencing Initiative Suomi
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
SISu
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Sequencing Initiative Suomi (SISu)
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:33.504244
Sequencing_Initiative_Suomi_SISu
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:33.504244
Other names: SISu, Sequencing Initiative Suomi (SISu), Sequencing_Initiative_Suomi_SISu
Names
More detailed information about this field from each metasource.
Sequencing Initiative Suomi
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
SISu
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Sequencing Initiative Suomi (SISu)
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:33.504244
Sequencing_Initiative_Suomi_SISu
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:33.504244
The Sequencing Initiative Suomi (SISu) search engine offers a way to search for data on sequence variants in the Finnish population. It provides valuable summary data for researchers and clinicians as well as other researchers with an interest in genetics in Finland. With SISu, you can examine the attributes and appearance of different variants in Finnish cohorts and see their aggregate distribution in Finland visualized on a map. The SISu project is an international collaboration between multiple research groups aiming to build tools for genomic medicine.
Description
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The Sequencing Initiative Suomi (SISu) search engine offers a way to search for data on sequence variants in the Finnish population. It provides valuable summary data for researchers and clinicians as well as other researchers with an interest in genetics in Finland. With SISu, you can examine the attributes and appearance of different variants in Finnish cohorts and see their aggregate distribution in Finland visualized on a map. The SISu project is an international collaboration between multiple research groups aiming to build tools for genomic medicine.
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
The Sequencing Initiative Suomi (SISu) search engine offers a way to search for data on sequence variants in Finns. It provides valuable summary data for researchers and clinicians as well as other people having an interest in genetics in Finland. With SISu, you can examine the attributes and appearance of different variants in Finnish cohorts and see their aggregate distribution in Finland visualized on a map.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:33.504244
Webpage:
http://www.sisuproject.fi/Webpage
More detailed information about this field from each metasource.
http://www.sisuproject.fi/
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.504244
Licence:
Name: UnlicenseLicence name
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Publications:
Publications
More detailed information about this field from each metasource.
Distribution and medical impact of loss-of-function variants in the Finnish founder population
PMID: 25078778
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty
PMID: 26030606
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Publications
More detailed information about this field from each metasource.
Distribution and medical impact of loss-of-function variants in the Finnish founder population
PMID: 25078778
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty
PMID: 26030606
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
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Distribution and medical impact of loss-of-function variants in the Finnish founder population
PubMed citations: 173.
173 articles citing: Distribution and medical impact of loss-of-function variants in the Finnish founder population
Reconstructing the history of founder events using genome-wide patterns of allele sharing across individuals. PMID:35737729
National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review. PMID:35328109
Genetic associations of protein-coding variants in human disease. PMID:35197637
Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder. PMID:35197553
The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections. PMID:35194621
Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome. PMID:34791234
Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation. PMID:34702931
The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians. PMID:34646295
Polygenic Score for Physical Activity Is Associated with Multiple Common Diseases. PMID:34559723
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes. PMID:34554798
Li-Fraumeni Syndrome in the Cancer Genomics Era. PMID:34240211
Lipoprotein(a). PMID:34196811
Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population. PMID:34081096
Novel prostate cancer susceptibility gene SP6 predisposes patients to aggressive disease. PMID:34012061
Taxonomic signatures of cause-specific mortality risk in human gut microbiome. PMID:33976176
ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease. PMID:33909604
Association of structural variation with cardiometabolic traits in Finns. PMID:33798444
Treatment and prevention of lipoprotein(a)-mediated cardiovascular disease: the emerging potential of RNA interference therapeutics. PMID:33769464
Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma. PMID:33723576
Novel Linkage Peaks Discovered for Diabetic Nephropathy in Individuals With Type 1 Diabetes. PMID:33414249
Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. PMID:33144568
High-depth African genomes inform human migration and health. PMID:33116287
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease. PMID:33110245
CSVS, a crowdsourcing database of the Spanish population genetic variability. PMID:32990755
Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals. PMID:32825847
Genetics of Atrial Fibrillation in 2020: GWAS, Genome Sequencing, Polygenic Risk, and Beyond. PMID:32716721
Inherited cardiac arrhythmias. PMID:32678103
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US. PMID:32640185
Embracing human genetics: a primer for developmental biologists. PMID:32616565
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
Evaluating drug targets through human loss-of-function genetic variation. PMID:32461653
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PMID:32369491
A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter. PMID:32343731
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria. PMID:32207686
The Role of Akt2 in the Protective Effect of Fenofibrate against Diabetic Nephropathy. PMID:32025205
Accuracy of Imputation for Apolipoprotein E ε Alleles in Genome-Wide Genotyping Data. PMID:31977056
Characterization of Human Dosage-Sensitive Transcription Factor Genes. PMID:31867040
Nonsynonymous SNPs in LPA homologous to plasminogen deficiency mutants represent novel null apo(a) alleles. PMID:31806727
The GenomeAsia 100K Project enables genetic discoveries across Asia. PMID:31802016
A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes. PMID:31383942
Exome sequencing of Finnish isolates enhances rare-variant association power. PMID:31367044
Validation of a clinical-genetics score to predict hemorrhagic transformations after rtPA. PMID:31366724
Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits. PMID:31345219
A genome-wide association study on lipoprotein (a) levels and coronary artery disease severity in a Chinese population. PMID:31186284
The Missing Diversity in Human Genetic Studies. PMID:31051100
A genome-wide association study of tramadol metabolism from post-mortem samples. PMID:30971809
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). PMID:30940925
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. PMID:30927251
Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients. PMID:30921766
The Missing Diversity in Human Genetic Studies. PMID:30901543
Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy. PMID:30858532
Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel. PMID:30777372
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy. PMID:30775854
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. PMID:30679432
A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region. PMID:30413653
Understanding the Hidden Complexity of Latin American Population Isolates. PMID:30401458
Phenome-wide association studies across large population cohorts support drug target validation. PMID:30327483
Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits. PMID:30206357
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis. PMID:30157244
Confirmation of GLRA3 as a susceptibility locus for albuminuria in Finnish patients with type 1 diabetes. PMID:30120300
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders. PMID:30115091
Apolipoprotein(a) is the Product of a Pseudogene: Implications for the Pathophysiology of Lipoprotein(a). PMID:30079281
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. PMID:30075111
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. PMID:29973585
Robust imaging and gene delivery to study human lymphoblastoid cell lines. PMID:29925960
Human demographic history has amplified the effects of background selection across the genome. PMID:29912945
A homozygous FANCM frameshift pathogenic variant causes male infertility. PMID:29895858
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. PMID:29861106
Genetic-Driven Druggable Target Identification and Validation. PMID:29803319
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PMID:29795570
Ancestry-specific recent effective population size in the Americas. PMID:29795556
Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families. PMID:29731251
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland. PMID:29706349
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. PMID:29691392
Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese. PMID:29691385
Genetic Factors Explain a Major Fraction of the 50% Lower Lipoprotein(a) Concentrations in Finns. PMID:29567679
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. PMID:29478914
Runs of homozygosity: windows into population history and trait architecture. PMID:29335644
Human genetics of infectious diseases: Unique insights into immunological redundancy. PMID:29254755
Whole genome sequencing in psychiatric disorders: the WGSPD consortium. PMID:29184211
The emerging role of immune dysfunction in mitochondrial diseases as a paradigm for understanding immunometabolism. PMID:29162500
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. PMID:29155802
A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study. PMID:29141982
Human gene essentiality. PMID:29082913
Full-gene haplotypes refine CYP2D6 metabolizer phenotype inferences. PMID:29075918
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. PMID:29069600
The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12. PMID:29056341
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. PMID:29026101
Fine-Scale Genetic Structure in Finland. PMID:28983069
D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study. PMID:28912365
Population-specific genetic variation in large sequencing data sets: why more data is still better. PMID:28905877
CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. PMID:28874143
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. PMID:28851873
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. PMID:28837162
Variants in calcium voltage-gated channel subunit Alpha1 C-gene (CACNA1C) are associated with sleep latency in infants. PMID:28792954
The Alzheimer's disease-protective CD33 splice variant mediates adaptive loss of function via diversion to an intracellular pool. PMID:28747436
Genetics in an isolated population like Finland: a different basis for genomic medicine? PMID:28730583
A population-specific reference panel empowers genetic studies of Anabaptist populations. PMID:28729679
The promise of discovering population-specific disease-associated genes in South Asia. PMID:28714977
Findings of a 1303 Korean whole-exome sequencing study. PMID:28706299
FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population. PMID:28702895
Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish Population. PMID:28652462
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations. PMID:28643794
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms. PMID:28512139
A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction. PMID:28444229
Population- and individual-specific regulatory variation in Sardinia. PMID:28394350
ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. PMID:28385496
Living in an adaptive world: Genomic dissection of the genus Homo and its immune response. PMID:28351985
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. PMID:28341696
Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study. PMID:28256260
Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom. PMID:28145424
The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases. PMID:28119442
Non-Coding Loss-of-Function Variation in Human Genomes. PMID:28076858
Human genetic insights into lipoproteins and risk of cardiometabolic disease. PMID:28059951
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels. PMID:28007139
The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit. PMID:27903613
Understanding rare and common diseases in the context of human evolution. PMID:27821149
The global spectrum of protein-coding pharmacogenomic diversity. PMID:27779249
The impact of recent population history on the deleterious mutation load in humans and close evolutionary relatives. PMID:27744216
Lipoprotein (a) as a cause of cardiovascular disease: insights from epidemiology, genetics, and biology. PMID:27677946
The Genetic Landscape of Renal Complications in Type 1 Diabetes. PMID:27647854
Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population. PMID:27646533
Analysis of protein-coding genetic variation in 60,706 humans. PMID:27535533
Identification of Siglec-1 null individuals infected with HIV-1. PMID:27510803
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. PMID:27503255
Withdrawn: Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era. PMID:27454361
Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants. PMID:27384325
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians. PMID:27260402
Genetics of Type 2 Diabetes: the Power of Isolated Populations. PMID:27189761
Detection and interpretation of shared genetic influences on 42 human traits. PMID:27182965
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland. PMID:27142677
Genome-wide time-to-event analysis on smoking progression stages in a family-based study. PMID:27134767
Diabetes in Population Isolates: Lessons from Greenland. PMID:27111118
Rapidly Registering Identity-by-Descent Across Ancestral Recombination Graphs. PMID:27104872
Cellular response to DNA interstrand crosslinks: the Fanconi anemia pathway. PMID:27094386
Evolution by gene loss. PMID:27087500
Structure, function, and genetics of lipoprotein (a). PMID:27074913
Whole-exome sequencing in an isolated population from the Dalmatian island of Vis. PMID:27049301
Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. PMID:27005778
Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland. PMID:26993633
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved? PMID:26988438
Health and population effects of rare gene knockouts in adult humans with related parents. PMID:26940866
Testing the role of predicted gene knockouts in human anthropometric trait variation. PMID:26908616
Human Genetics and the Causal Role of Lipoprotein(a) for Various Diseases. PMID:26896185
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology. PMID:26740942
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress. PMID:26675522
The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome. PMID:26642228
Population Structure Shapes Copy Number Variation in Malaria Parasites. PMID:26613787
Update of the human and mouse Fanconi anemia genes. PMID:26596371
Impulsive alcohol-related risk-behavior and emotional dysregulation among individuals with a serotonin 2B receptor stop codon. PMID:26575222
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. PMID:26573920
Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014. PMID:26565519
Protective alleles and modifier variants in human health and disease. PMID:26503796
Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era. PMID:26394276
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals. PMID:26292667
High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes. PMID:26273529
AMIGO-Kv2.1 Potassium Channel Complex Is Associated With Schizophrenia-Related Phenotypes. PMID:26240432
Homozygous loss-of-function variants in European cosmopolitan and isolate populations. PMID:26173456
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. PMID:26130695
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. PMID:26046368
Natural human knockouts and the era of genotype to phenotype. PMID:26029266
Estimating the mutation load in human genomes. PMID:25963372
RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families. PMID:25918678
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders. PMID:25898925
New approaches to establish genetic causality. PMID:25864169
Rare variant association studies: considerations, challenges and opportunities. PMID:25709717
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. PMID:25585697
No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans. PMID:25581429
Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. PMID:25575512
Using genetically isolated populations to understand the genomic basis of disease. PMID:25473423
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. PMID:25439097
Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. PMID:25288723
Population genomics: a new window into the genetics of complex diseases. PMID:25139190 -
Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty
PubMed citations: 3.
3 articles citing: Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty
The Genetic Basis of Delayed Puberty. PMID:31293522
Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries. PMID:31220230
Genes underlying delayed puberty. PMID:29730183
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disease
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
genetic polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
genotype
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
sequencing
metasource: Fairsharing.org
version: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.504244
Tags
More detailed information about this field from each metasource.
disease
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
genetic polymorphism
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
genotype
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
sequencing
metasource: Fairsharing.orgversion: FAIRsharing.org: SISu; Sequencing Initiative Suomi; DOI: https://doi.org/10.25504/FAIRsharing.t1a232; Last edited: Jan. 8, 2019, 1:23 p.m.; Last accessed: Jan 03 2022 7:08 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:33.504244
disease polymorphism genotype sequencing
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