Patrick Concannon
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View article: Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer.
Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer. Open
Breast cancer includes several subtypes with distinct characteristic biological, pathologic, and clinical features. Elucidating subtype-specific genetic etiology could provide insights into the heterogeneity of breast cancer to facilitate …
View article: Type 1 Diabetes Genetics Consortium
Type 1 Diabetes Genetics Consortium Open
Type 1 diabetes (T1D) results from the autoimmune destruction of the insulin-producing β cells. Genetic factors account for approximately 50% of the risk for T1D but, by the late 1990s, the genetic basis was limited. The Type 1 Diabetes Ge…
View article: <b>Reduced function of the adaptor SH2B3 promotes T1D via altered cytokine-regulated, T cell intrinsic immune tolerance</b>
<b>Reduced function of the adaptor SH2B3 promotes T1D via altered cytokine-regulated, T cell intrinsic immune tolerance</b> Open
Genome-wide association studies have identified SH2B3 as an important non-MHC gene for islet autoimmunity and type 1 diabetes (T1D). In this study, we found a single SH2B3 haplotype significantly associated with increased risk for human T1…
View article: <b>Reduced function of the adaptor SH2B3 promotes T1D via altered cytokine-regulated, T cell intrinsic immune tolerance</b>
<b>Reduced function of the adaptor SH2B3 promotes T1D via altered cytokine-regulated, T cell intrinsic immune tolerance</b> Open
Genome-wide association studies have identified SH2B3 as an important non-MHC gene for islet autoimmunity and type 1 diabetes (T1D). In this study, we found a single SH2B3 haplotype significantly associated with increased risk for human T1…
View article: Bayesian Effect Size Ranking to Prioritise Genetic Risk Variants in Common Diseases for Follow‐Up Studies
Bayesian Effect Size Ranking to Prioritise Genetic Risk Variants in Common Diseases for Follow‐Up Studies Open
Biological datasets often consist of thousands or millions of variables, e.g. genetic variants or biomarkers, and when sample sizes are large it is common to find many associated with an outcome of interest, for example, disease risk in a …
View article: Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer
Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer Open
Importance Heterogeneity in development of estrogen receptor (ER)-specific first primary breast cancer exists due to deleterious germline variants in moderate- to high-penetrance breast cancer susceptibility genes, but it is unknown if the…
View article: Manipulation of alternative splicing of<i>IKZF1</i>elicits distinct gene regulatory responses in T cells
Manipulation of alternative splicing of<i>IKZF1</i>elicits distinct gene regulatory responses in T cells Open
Genome-wide studies have identified significant allelic associations between genetic variants in or near the IKZF1 gene and multiple autoimmune disorders. IKZF1 , encoding the transcription factor IKAROS, produces at least 10 distinct tran…
View article: Supplementary Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer
Supplementary Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer Open
Table S1-S16, Figure S1-S7
View article: Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer
Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer Open
Breast cancer includes several subtypes with distinct characteristic biological, pathologic, and clinical features. Elucidating subtype-specific genetic etiology could provide insights into the heterogeneity of breast cancer to facilitate …
View article: Supplementary Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer
Supplementary Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer Open
Table S1-S16, Figure S1-S7
View article: Reduced function of the adaptor SH2B3 promotes T1D via altered gc cytokine-regulated, T cell intrinsic immune tolerance
Reduced function of the adaptor SH2B3 promotes T1D via altered gc cytokine-regulated, T cell intrinsic immune tolerance Open
Genome-wide association studies have identified SH2B3 as an important non-MHC gene for islet autoimmunity and type 1 diabetes (T1D). In this study, we found a single SH2B3 haplotype significantly associated with increased risk for human T1…
View article: Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer
Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer Open
Breast cancer includes several subtypes with distinct characteristic biological, pathologic, and clinical features. Elucidating subtype-specific genetic etiology could provide insights into the heterogeneity of breast cancer to facilitate …
View article: Supplementary Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer
Supplementary Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer Open
Table S1-S16, Figure S1-S7
View article: Supplementary Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer
Supplementary Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer Open
Table S1-S16, Figure S1-S7
View article: Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer
Data from Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer Open
Breast cancer includes several subtypes with distinct characteristic biological, pathologic, and clinical features. Elucidating subtype-specific genetic etiology could provide insights into the heterogeneity of breast cancer to facilitate …
View article: Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer
Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer Open
Breast cancer includes several subtypes with distinct characteristic biological, pathologic, and clinical features. Elucidating subtype-specific genetic etiology could provide insights into the heterogeneity of breast cancer to facilitate …
View article: A genome-wide association study of contralateral breast cancer in the Women’s Environmental Cancer and Radiation Epidemiology Study
A genome-wide association study of contralateral breast cancer in the Women’s Environmental Cancer and Radiation Epidemiology Study Open
Background Contralateral breast cancer (CBC) is the most common second primary cancer diagnosed in breast cancer survivors, yet the understanding of the genetic susceptibility of CBC, particularly with respect to common variants, remains i…
View article: Transcriptional and epigenetic profiling of Arabidopsis thaliana exposed to low dose ionizing radiation
Transcriptional and epigenetic profiling of Arabidopsis thaliana exposed to low dose ionizing radiation Open
RNA and methylation profiling of Arabidopsis seedlings to low dose ionizing radiation
View article: Transcriptional and epigenetic profiling of Arabidopsis thaliana exposed to low dose ionizing radiation
Transcriptional and epigenetic profiling of Arabidopsis thaliana exposed to low dose ionizing radiation Open
RNA and methylation profiling of Arabidopsis seedlings to low dose ionizing radiation
View article: Multi-omics profiling reveals ethylene signalling as a key pathway underlying both genetic and epigenetic responses to low-dose ionizing radiation in<i>Arabidopsis</i>
Multi-omics profiling reveals ethylene signalling as a key pathway underlying both genetic and epigenetic responses to low-dose ionizing radiation in<i>Arabidopsis</i> Open
There is increasing interest in the effects of low-dose ionizing radiation (IR) on plants as might occur during spaceflight, or as a consequence of human activities, such as nuclear power generation, that may result in the release of radio…
View article: Human immune phenotyping reveals accelerated aging in type 1 diabetes
Human immune phenotyping reveals accelerated aging in type 1 diabetes Open
The proportions and phenotypes of immune cell subsets in peripheral blood undergo continual and dramatic remodeling throughout the human life span, which complicates efforts to identify disease-associated immune signatures in type 1 diabet…
View article: A genomic data archive from the Network for Pancreatic Organ donors with Diabetes
A genomic data archive from the Network for Pancreatic Organ donors with Diabetes Open
The Network for Pancreatic Organ donors with Diabetes (nPOD) is the largest biorepository of human pancreata and associated immune organs from donors with type 1 diabetes (T1D), maturity-onset diabetes of the young (MODY), cystic fibrosis-…
View article: UBASH3A Interacts with PTPN22 to Regulate IL2 Expression and Risk for Type 1 Diabetes
UBASH3A Interacts with PTPN22 to Regulate IL2 Expression and Risk for Type 1 Diabetes Open
UBASH3A is a negative regulator of T cell activation and IL-2 production and plays key roles in autoimmunity. Although previous studies revealed the individual effects of UBASH3A on risk for type 1 diabetes (T1D; a common autoimmune diseas…
View article: Human immune phenotyping reveals accelerated aging in type 1 diabetes
Human immune phenotyping reveals accelerated aging in type 1 diabetes Open
The composition of immune cells in peripheral blood is dramatically remodeled throughout the human lifespan, as environmental exposures shape the proportion and phenotype of cellular subsets. These dynamic shifts complicate efforts to iden…
View article: Ataxia-telangiectasia: mutations in the ATM gene
Ataxia-telangiectasia: mutations in the ATM gene Open
The invention is related to ataxia-telangiectasia, specifically, mutations in the ataxia-telangiectasia mutated gene.
View article: The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women
The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women Open
Background: Contralateral breast cancer (CBC) is associated with younger age at first diagnosis, family history and pathogenic germline variants (PGVs) in genes such as BRCA1, BRCA2 and PALB2. However, data regarding genetic factors predis…
View article: Supplementary Data for Newman JRB, Long A, Speake C, Greenbaum CJ, Cerosaletti K, Rich SS, Onengut-Gumuscu S, McIntyre LM, Buckner JH, Concannon P, "Shifts in isoform usage underlie transcriptional differences in regulatory T cells in type 1 diabetes", submitted to <em>Communications Biology</em>
Supplementary Data for Newman JRB, Long A, Speake C, Greenbaum CJ, Cerosaletti K, Rich SS, Onengut-Gumuscu S, McIntyre LM, Buckner JH, Concannon P, "Shifts in isoform usage underlie transcriptional differences in regulatory T cells in type 1 diabetes", submitted to <em>Communications Biology</em> Open
Contains Supplementary Dataset associated with Communications Biology manuscript Contents: Supplementary Data 1 Differentially-spliced genes in Tregs with percent spliced in of major splicing differences between isoforms Supplementary Dat…
View article: Flap-enabled next-generation capture (FENGC): precision targeted single-molecule profiling of epigenetic heterogeneity, chromatin dynamics, and genetic variation
Flap-enabled next-generation capture (FENGC): precision targeted single-molecule profiling of epigenetic heterogeneity, chromatin dynamics, and genetic variation Open
Targeted sequencing is an increasingly sought technology. Available methods, however, are often costly and yield high proportions of off-target reads. Here, we present FENGC, a scalable, multiplexed method in which target sequences are ass…