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Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of Brazilian patients' suspicion of IEI without a genetic diagnosis. We foresee a broad use of this dataset by the scientific community in order to provide a more accurate diagnosis of IEI disorders. Data description: Twenty singleton unrelated patients treated at four different hospitals in the state of Rio de Janeiro, Brazil were enrolled in our study. Half of the patients were male with mean ages of 9±3, while females were 12±10 years old. The WES was performed in the Illumina NextSeq platform with at least 90% of sequenced bases with a minimum of 30 reads depth. Each sample had an average of 20,274 variants, comprising 116 classified as rare pathogenic or likely pathogenic according to ACMG guidelines. The genotype-phenotype association was impaired by the lack of detailed clinical and laboratory information, besides the unavailability of molecular and functional studies which, comprise the limitations of this study. Overall, the access to clinical exome sequencing data is limited, challenging exploratory analyses and the understanding of genetic mechanisms underlying disorders. Therefore, by making these data available, we aim to increase the number of WES data from Brazilian samples despite contributing to the study of monogenic IEI-disorders.
The table MN- Demographic Data is part of the dataset Demographic Data, available at https://columbia.redivis.com/datasets/fh74-90v3ge9m2. It contains 3514445 rows across 699 variables.
The demographic data in this table is incomplete. Not all programs that received ARPA funding reported demographic counts, and the programs that did report demographics did not report all fields.
A collection of population life tables covering a multitude of countries and many years. Most of the HLD life tables are life tables for national populations, which have been officially published by national statistical offices. Some of the HLD life tables refer to certain regional or ethnic sub-populations within countries. Parts of the HLD life tables are non-official life tables produced by researchers. Life tables describe the extent to which a generation of people (i.e. life table cohort) dies off with age. Life tables are the most ancient and important tool in demography. They are widely used for descriptive and analytical purposes in demography, public health, epidemiology, population geography, biology and many other branches of science. HLD includes the following types of data: * complete life tables in text format; * abridged life tables in text format; * references to statistical publications and other data sources; * scanned copies of the original life tables as they were published. Three scientific institutions are jointly developing the HLD: the Max Planck Institute for Demographic Research (MPIDR) in Rostock, Germany, the Department of Demography at the University of California at Berkeley, USA and the Institut national d''��tudes d��mographiques (INED) in Paris, France. The MPIDR is responsible for maintaining the database.
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License information was derived automatically
Context
The dataset tabulates the population of Table Rock by gender across 18 age groups. It lists the male and female population in each age group along with the gender ratio for Table Rock. The dataset can be utilized to understand the population distribution of Table Rock by gender and age. For example, using this dataset, we can identify the largest age group for both Men and Women in Table Rock. Additionally, it can be used to see how the gender ratio changes from birth to senior most age group and male to female ratio across each age group for Table Rock.
Key observations
Largest age group (population): Male # 65-69 years (35) | Female # 65-69 years (21). Source: U.S. Census Bureau American Community Survey (ACS) 2019-2023 5-Year Estimates.
When available, the data consists of estimates from the U.S. Census Bureau American Community Survey (ACS) 2019-2023 5-Year Estimates.
Age groups:
Scope of gender :
Please note that American Community Survey asks a question about the respondents current sex, but not about gender, sexual orientation, or sex at birth. The question is intended to capture data for biological sex, not gender. Respondents are supposed to respond with the answer as either of Male or Female. Our research and this dataset mirrors the data reported as Male and Female for gender distribution analysis.
Variables / Data Columns
Good to know
Margin of Error
Data in the dataset are based on the estimates and are subject to sampling variability and thus a margin of error. Neilsberg Research recommends using caution when presening these estimates in your research.
Custom data
If you do need custom data for any of your research project, report or presentation, you can contact our research staff at research@neilsberg.com for a feasibility of a custom tabulation on a fee-for-service basis.
Neilsberg Research Team curates, analyze and publishes demographics and economic data from a variety of public and proprietary sources, each of which often includes multiple surveys and programs. The large majority of Neilsberg Research aggregated datasets and insights is made available for free download at https://www.neilsberg.com/research/.
This dataset is a part of the main dataset for Table Rock Population by Gender. You can refer the same here
The American Community Survey (ACS) is an ongoing survey that provides data every year -- giving communities the current information they need to plan investments and services. The ACS covers a broad range of topics about social, economic, demographic, and housing characteristics of the U.S. population. Much of the ACS data provided on the Census Bureau's Web site are available separately by age group, race, Hispanic origin, and sex. Summary files, Subject tables, Data profiles, and Comparison profiles are available for the nation, all 50 states, the District of Columbia, Puerto Rico, every congressional district, every metropolitan area, and all counties and places with populations of 65,000 or more. Detailed Tables contain the most detailed cross-tabulations published for areas 65k and more. The data are population counts. There are over 31,000 variables in this dataset.
The table MI- Demographic Data is part of the dataset Demographic Data, available at https://columbia.redivis.com/datasets/fh74-90v3ge9m2. It contains 7796757 rows across 699 variables.
CC0 1.0 Universal Public Domain Dedicationhttps://creativecommons.org/publicdomain/zero/1.0/
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Key Table Information.Table Title.Nonemployer Statistics by Demographics series (NES-D): Statistics for Employer and Nonemployer Firms by Industry and Veteran Status for the U.S., States, Metro Areas, and Counties: 2021.Table ID.ABSNESD2021.AB00MYNESD01D.Survey/Program.Economic Surveys.Year.2021.Dataset.ECNSVY Nonemployer Statistics by Demographics Company Summary.Source.U.S. Census Bureau, 2021 Economic Surveys, Nonemployer Statistics by Demographics.Release Date.2024-08-08.Release Schedule.The Nonemployer Statistics by Demographics (NES-D) is released yearly, beginning in 2017..Sponsor.National Center for Science and Engineering Statistics, U.S. National Science Foundation.Table Universe.Data in this table combines estimates from the Annual Business Survey (employer firms) and the Nonemployer Statistics by Demographics (nonemployer firms).Includes U.S. firms with no paid employment or payroll, annual receipts of $1,000 or more ($1 or more in the construction industries) and filing Internal Revenue Service (IRS) tax forms for sole proprietorships (Form 1040, Schedule C), partnerships (Form 1065), or corporations (the Form 1120 series).Includes U.S. employer firms estimates of business ownership by sex, ethnicity, race, and veteran status from the 2022 Annual Business Survey (ABS) collection. The employer business dataset universe consists of employer firms that are in operation for at least some part of the reference year, are located in one of the 50 U.S. states, associated offshore areas, or the District of Columbia, have paid employees and annual receipts of $1,000 or more, and are classified in one of nineteen in-scope sectors defined by the 2017 North American Industry Classification System (NAICS), except for NAICS 111, 112, 482, 491, 521, 525, 813, 814, and 92 which are not covered.Data are also obtained from administrative records and other economic surveys. Note: For employer data only, the collection year is the year in which the data are collected. A reference year is the year that is referenced in the questions on the survey and in which the statistics are tabulated. For example, the 2022 ABS collection year produces statistics for the 2021 reference year. The "Year" column in the table is the reference year..Methodology.Data Items and Other Identifying Records.Total number of employer and nonemployer firmsTotal sales, value of shipments, or revenue of employer and nonemployer firms ($1,000)Number of nonemployer firmsSales, value of shipments, or revenue of nonemployer firms ($1,000)Number of employer firmsSales, value of shipments, or revenue of employer firms ($1,000)Number of employeesAnnual payroll ($1,000)These data are aggregated by the following demographic classifications of firm for:All firms Classifiable (firms classifiable by sex, ethnicity, race, and veteran status) Veteran Status (defined as having served in any branch of the U.S. Armed Forces) Veteran Equally veteran/nonveteran Nonveteran Unclassifiable (firms not classifiable by sex, ethnicity, race, and veteran status) Definitions can be found by clicking on the column header in the table or by accessing the Economic Census Glossary..Unit(s) of Observation.The reporting units for the NES-D and the ABS are companies or firms rather than establishments. A company or firm is comprised of one or more in-scope establishments that operate under the ownership or control of a single organization..Geography Coverage.The data are shown for the total of all sectors (00) and the 2-digit NAICS code levels for:United StatesStates and the District of ColumbiaMetropolitan Statistical AreasCountiesData are also shown for the 3- and 4-digit NAICS code for:United StatesStates and the District of ColumbiaFor information about geographies, see Geographies..Industry Coverage.The data are shown for the total of all sectors ("00"), and at the 2- through 4-digit NAICS code levels depending on geography. Sector "00" is not an official NAICS sector but is rather a way to indicate a total for multiple sectors. Note: Other programs outside of ABS may use sector 00 to indicate when multiple NAICS sectors are being displayed within the same table and/or dataset.The following are excluded from the total of all sectors:Crop and Animal Production (NAICS 111 and 112)Rail Transportation (NAICS 482)Postal Service (NAICS 491)Monetary Authorities-Central Bank (NAICS 521)Funds, Trusts, and Other Financial Vehicles (NAICS 525)Private Households (NAICS 814)Public Administration (NAICS 92)For information about NAICS, see North American Industry Classification System..Sampling.NES-D nonemployer data are not conducted through sampling. Nonemployer Statistics (NES) data originate from statistical information obtained through business income tax records that the Internal Revenue Service (IRS) provides to the Census Bureau. The NES-D adds demographic characteristics to the NES data and produces the total firm counts and the total receipts by those demographic characteris...
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Context
The dataset tabulates the Table Grove population distribution across 18 age groups. It lists the population in each age group along with the percentage population relative of the total population for Table Grove. The dataset can be utilized to understand the population distribution of Table Grove by age. For example, using this dataset, we can identify the largest age group in Table Grove.
Key observations
The largest age group in Table Grove, IL was for the group of age 65 to 69 years years with a population of 30 (9.43%), according to the ACS 2019-2023 5-Year Estimates. At the same time, the smallest age group in Table Grove, IL was the 75 to 79 years years with a population of 7 (2.20%). Source: U.S. Census Bureau American Community Survey (ACS) 2019-2023 5-Year Estimates
When available, the data consists of estimates from the U.S. Census Bureau American Community Survey (ACS) 2019-2023 5-Year Estimates
Age groups:
Variables / Data Columns
Good to know
Margin of Error
Data in the dataset are based on the estimates and are subject to sampling variability and thus a margin of error. Neilsberg Research recommends using caution when presening these estimates in your research.
Custom data
If you do need custom data for any of your research project, report or presentation, you can contact our research staff at research@neilsberg.com for a feasibility of a custom tabulation on a fee-for-service basis.
Neilsberg Research Team curates, analyze and publishes demographics and economic data from a variety of public and proprietary sources, each of which often includes multiple surveys and programs. The large majority of Neilsberg Research aggregated datasets and insights is made available for free download at https://www.neilsberg.com/research/.
This dataset is a part of the main dataset for Table Grove Population by Age. You can refer the same here
https://data.gov.tw/licensehttps://data.gov.tw/license
110 years of current demographic data provided by this collection
A computerized data set of demographic, economic and social data for 227 countries of the world. Information presented includes population, health, nutrition, mortality, fertility, family planning and contraceptive use, literacy, housing, and economic activity data. Tabular data are broken down by such variables as age, sex, and urban/rural residence. Data are organized as a series of statistical tables identified by country and table number. Each record consists of the data values associated with a single row of a given table. There are 105 tables with data for 208 countries. The second file is a note file, containing text of notes associated with various tables. These notes provide information such as definitions of categories (i.e. urban/rural) and how various values were calculated. The IDB was created in the U.S. Census Bureau''s International Programs Center (IPC) to help IPC staff meet the needs of organizations that sponsor IPC research. The IDB provides quick access to specialized information, with emphasis on demographic measures, for individual countries or groups of countries. The IDB combines data from country sources (typically censuses and surveys) with IPC estimates and projections to provide information dating back as far as 1950 and as far ahead as 2050. Because the IDB is maintained as a research tool for IPC sponsor requirements, the amount of information available may vary by country. As funding and research activity permit, the IPC updates and expands the data base content. Types of data include: * Population by age and sex * Vital rates, infant mortality, and life tables * Fertility and child survivorship * Migration * Marital status * Family planning Data characteristics: * Temporal: Selected years, 1950present, projected demographic data to 2050. * Spatial: 227 countries and areas. * Resolution: National population, selected data by urban/rural * residence, selected data by age and sex. Sources of data include: * U.S. Census Bureau * International projects (e.g., the Demographic and Health Survey) * United Nations agencies Links: * ICPSR: http://www.icpsr.umich.edu/icpsrweb/ICPSR/studies/08490
This layer shows total population counts by sex, age, and race groups data from the 2020 Census Demographic and Housing Characteristics. This is shown by Nation, Consolidated City, Census Designated Place, Incorporated Place boundaries. Each geography layer contains a common set of Census counts based on available attributes from the U.S. Census Bureau. There are also additional calculated attributes related to this topic, which can be mapped or used within analysis. To see the full list of attributes available in this service, go to the "Data" tab above, and then choose "Fields" at the top right. Each attribute contains definitions, additional details, and the formula for calculated fields in the field description.Vintage of boundaries and attributes: 2020 Demographic and Housing Characteristics Table(s): P1, H1, H3, P2, P3, P5, P12, P13, P17, PCT12 (Not all lines of these DHC tables are available in this feature layer.)Data downloaded from: U.S. Census Bureau’s data.census.gov siteDate the Data was Downloaded: May 25, 2023Geography Levels included: Nation, Consolidated City, Census Designated Place, Incorporated PlaceNational Figures: included in Nation layer The United States Census Bureau Demographic and Housing Characteristics: 2020 Census Results 2020 Census Data Quality Geography & 2020 Census Technical Documentation Data Table Guide: includes the final list of tables, lowest level of geography by table and table shells for the Demographic Profile and Demographic and Housing Characteristics.News & Updates This layer is ready to be used in ArcGIS Pro, ArcGIS Online and its configurable apps, Story Maps, dashboards, Notebooks, Python, custom apps, and mobile apps. Data can also be exported for offline workflows. Please cite the U.S. Census Bureau when using this data. Data Processing Notes: These 2020 Census boundaries come from the US Census TIGER geodatabases. These are Census boundaries with water and/or coastlines erased for cartographic and mapping purposes. For Census tracts and block groups, the water cutouts are derived from a subset of the 2020 Areal Hydrography boundaries offered by TIGER. Water bodies and rivers which are 50 million square meters or larger (mid to large sized water bodies) are erased from the tract and block group boundaries, as well as additional important features. For state and county boundaries, the water and coastlines are derived from the coastlines of the 2020 500k TIGER Cartographic Boundary Shapefiles. These are erased to more accurately portray the coastlines and Great Lakes. The original AWATER and ALAND fields are unchanged and available as attributes within the data table (units are square meters). The layer contains all US states, Washington D.C., and Puerto Rico. Census tracts with no population that occur in areas of water, such as oceans, are removed from this data service (Census Tracts beginning with 99). Block groups that fall within the same criteria (Block Group denoted as 0 with no area land) have also been removed.Percentages and derived counts, are calculated values (that can be identified by the "_calc_" stub in the field name). Field alias names were created based on the Table Shells file available from the Data Table Guide for the Demographic Profile and Demographic and Housing Characteristics. Not all lines of all tables listed above are included in this layer. Duplicative counts were dropped. For example, P0030001 was dropped, as it is duplicative of P0010001.To protect the privacy and confidentiality of respondents, their data has been protected using differential privacy techniques by the U.S. Census Bureau.
The table HI- Demographic Data is part of the dataset Demographic Data, available at https://columbia.redivis.com/datasets/fh74-90v3ge9m2. It contains 767560 rows across 699 variables.
Age, Sex, Race, Ethnicity, Total Housing Units, and Voting Age Population. This service is updated annually with American Community Survey (ACS) 5-year data. Contact: District of Columbia, Office of Planning. Email: planning@dc.gov. Geography: District-wide. Current Vintage: 2019-2023. ACS Table(s): DP05. Data downloaded from: Census Bureau's API for American Community Survey. Date of API call: January 2, 2025. National Figures: data.census.gov. Please cite the Census and ACS when using this data. Data Note from the Census: Data are based on a sample and are subject to sampling variability. The degree of uncertainty for an estimate arising from sampling variability is represented through the use of a margin of error. The value shown here is the 90 percent margin of error. The margin of error can be interpreted as providing a 90 percent probability that the interval defined by the estimate minus the margin of error and the estimate plus the margin of error (the lower and upper confidence bounds) contains the true value. In addition to sampling variability, the ACS estimates are subject to nonsampling error (for a discussion of nonsampling variability, see Accuracy of the Data). The effect of nonsampling error is not represented in these tables. Data Processing Notes: This layer is updated automatically when the most current vintage of ACS data is released each year, usually in December. The layer always contains the latest available ACS 5-year estimates. It is updated annually within days of the Census Bureau's release schedule. Boundaries come from the US Census TIGER geodatabases. Boundaries are updated at the same time as the data updates (annually), and the boundary vintage appropriately matches the data vintage as specified by the Census. These are Census boundaries with water and/or coastlines clipped for cartographic purposes. For census tracts, the water cutouts are derived from a subset of the 2020 AWATER (Area Water) boundaries offered by TIGER. For state and county boundaries, the water and coastlines are derived from the coastlines of the 500k TIGER Cartographic Boundary Shapefiles. The original AWATER and ALAND fields are still available as attributes within the data table (units are square meters). Field alias names were created based on the Table Shells file available from the American Community Survey Summary File Documentation page. Data processed using R statistical package and ArcGIS Desktop. Margin of Error was not included in this layer but is available from the Census Bureau. Contact the Office of Planning for more information about obtaining Margin of Error values.
2001 Population Census - Table E2001A : 2001 Population Census - Main Tables (Demographic and Social)
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Age, Sex, Race, Ethnicity, Total Housing Units, and Voting Age Population. This service is updated annually with American Community Survey (ACS) 5-year data. Contact: District of Columbia, Office of Planning. Email: planning@dc.gov. Geography: Census Tracts. Current Vintage: 2019-2023. ACS Table(s): DP05. Data downloaded from: Census Bureau's API for American Community Survey. Date of API call: January 2, 2025. National Figures: data.census.gov. Please cite the Census and ACS when using this data. Data Note from the Census: Data are based on a sample and are subject to sampling variability. The degree of uncertainty for an estimate arising from sampling variability is represented through the use of a margin of error. The value shown here is the 90 percent margin of error. The margin of error can be interpreted as providing a 90 percent probability that the interval defined by the estimate minus the margin of error and the estimate plus the margin of error (the lower and upper confidence bounds) contains the true value. In addition to sampling variability, the ACS estimates are subject to nonsampling error (for a discussion of nonsampling variability, see Accuracy of the Data). The effect of nonsampling error is not represented in these tables. Data Processing Notes: This layer is updated automatically when the most current vintage of ACS data is released each year, usually in December. The layer always contains the latest available ACS 5-year estimates. It is updated annually within days of the Census Bureau's release schedule. Boundaries come from the US Census TIGER geodatabases. Boundaries are updated at the same time as the data updates (annually), and the boundary vintage appropriately matches the data vintage as specified by the Census. These are Census boundaries with water and/or coastlines clipped for cartographic purposes. For census tracts, the water cutouts are derived from a subset of the 2020 AWATER (Area Water) boundaries offered by TIGER. For state and county boundaries, the water and coastlines are derived from the coastlines of the 500k TIGER Cartographic Boundary Shapefiles. The original AWATER and ALAND fields are still available as attributes within the data table (units are square meters). Field alias names were created based on the Table Shells file available from the American Community Survey Summary File Documentation page. Data processed using R statistical package and ArcGIS Desktop. Margin of Error was not included in this layer but is available from the Census Bureau. Contact the Office of Planning for more information about obtaining Margin of Error values.
This layer shows race and ethnicity data from the 2020 Census Demographic and Housing Characteristics. This is shown by Nation, Consolidated City, Census Designated Place, Incorporated Place boundaries. Each geography layer contains a common set of Census counts based on available attributes from the U.S. Census Bureau. There are also additional calculated attributes related to this topic, which can be mapped or used within analysis. To see the full list of attributes available in this service, go to the "Data" tab above, and then choose "Fields" at the top right. Each attribute contains definitions, additional details, and the formula for calculated fields in the field description.Vintage of boundaries and attributes: 2020 Demographic and Housing Characteristics Table(s): P1, H1, H3, P5, P9 Data downloaded from: U.S. Census Bureau’s data.census.gov siteDate the Data was Downloaded: May 25, 2023Geography Levels included: Nation, Consolidated City, Census Designated Place, Incorporated PlaceNational Figures: included in Nation layer The United States Census Bureau Demographic and Housing Characteristics: 2020 Census Results 2020 Census Data Quality Geography & 2020 Census Technical Documentation Data Table Guide: includes the final list of tables, lowest level of geography by table and table shells for the Demographic Profile and Demographic and Housing Characteristics.News & Updates This layer is ready to be used in ArcGIS Pro, ArcGIS Online and its configurable apps, Story Maps, dashboards, Notebooks, Python, custom apps, and mobile apps. Data can also be exported for offline workflows. Please cite the U.S. Census Bureau when using this data. Data Processing Notes: These 2020 Census boundaries come from the US Census TIGER geodatabases. These are Census boundaries with water and/or coastlines erased for cartographic and mapping purposes. For Census tracts and block groups, the water cutouts are derived from a subset of the 2020 Areal Hydrography boundaries offered by TIGER. Water bodies and rivers which are 50 million square meters or larger (mid to large sized water bodies) are erased from the tract and block group boundaries, as well as additional important features. For state and county boundaries, the water and coastlines are derived from the coastlines of the 2020 500k TIGER Cartographic Boundary Shapefiles. These are erased to more accurately portray the coastlines and Great Lakes. The original AWATER and ALAND fields are unchanged and available as attributes within the data table (units are square meters). The layer contains all US states, Washington D.C., and Puerto Rico. Census tracts with no population that occur in areas of water, such as oceans, are removed from this data service (Census Tracts beginning with 99). Block groups that fall within the same criteria (Block Group denoted as 0 with no area land) have also been removed.Percentages and derived counts, are calculated values (that can be identified by the "_calc_" stub in the field name). Field alias names were created based on the Table Shells file available from the Data Table Guide for the Demographic Profile and Demographic and Housing Characteristics. Not all lines of all tables listed above are included in this layer. Duplicative counts were dropped. For example, P0030001 was dropped, as it is duplicative of P0010001.To protect the privacy and confidentiality of respondents, their data has been protected using differential privacy techniques by the U.S. Census Bureau.
Summary File 1 Data Profile 1 (SF1 Table DP-1) for Census Tracts in the Minneapolis-St. Paul 7 County metropolitan area is a subset of the profile of general demographic characteristics for 2000 prepared by the U.S. Census Bureau.
This table (DP-1) includes: Sex and Age, Race, Race alone or in combination with one or more otehr races, Hispanic or Latino and Race, Relationship, Household by Type, Housing Occupancy, Housing Tenure
US Census 2000 Demographic Profiles: 100-percent and Sample Data
The profile includes four tables (DP-1 thru DP-4) that provide various demographic, social, economic, and housing characteristics for the United States, states, counties, minor civil divisions in selected states, places, metropolitan areas, American Indian and Alaska Native areas, Hawaiian home lands and congressional districts (106th Congress). It includes 100-percent and sample data from Census 2000. The DP-1 table is available as part of the Summary File 1 (SF 1) dataset, and the other three tables are available as part of the Summary File 3 (SF 3) dataset.
The US Census provides DP-1 thru DP-4 data at the Census tract level through their DataFinder search engine. However, since the Metropolitan Council and MetroGIS participants are interested in all Census tracts within the seven county metropolitan area, it was quicker to take the raw Census SF-1 and SF-3 data at tract levels and recreate the DP1-4 variables using the appropriate formula for each DP variable. This file lists the formulas used to create the DP variables.
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License information was derived automatically
The demographic data, clinical characteristics, and microbiological findings of pediatric patients are detailed in Supplementary Table 1.
Experimental Age, Sex, Race, and Ethnicity variables. Due to the impact of the COVID-19 pandemic, instead of providing the standard 1-year data products, the Census Bureau released experimental estimates from the 1-year data. This includes a limited number of data tables for the nation, states, and the District of Columbia. Please visit the following webpage for details. https://www.census.gov/programs-surveys/acs/data/experimental-data.htmlContact: District of Columbia, Office of Planning. Email: planning@dc.gov. Geography: District-wide. Current Vintage: 2020. ACS Table(s): Demographic - Experimental. Data downloaded from: Census Bureau's API for American Community Survey. Date of API call: March 18, 2022. National Figures: data.census.gov. Please cite the Census and ACS when using this data. Data Note from the Census: Data are based on a sample and are subject to sampling variability. The degree of uncertainty for an estimate arising from sampling variability is represented through the use of a margin of error. Data processed using R statistical package and ArcGIS Desktop. Margin of Error was not included in this layer but is available from the Census Bureau. Contact the Office of Planning for more information about obtaining Margin of Error values.
Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
License information was derived automatically
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of Brazilian patients' suspicion of IEI without a genetic diagnosis. We foresee a broad use of this dataset by the scientific community in order to provide a more accurate diagnosis of IEI disorders. Data description: Twenty singleton unrelated patients treated at four different hospitals in the state of Rio de Janeiro, Brazil were enrolled in our study. Half of the patients were male with mean ages of 9±3, while females were 12±10 years old. The WES was performed in the Illumina NextSeq platform with at least 90% of sequenced bases with a minimum of 30 reads depth. Each sample had an average of 20,274 variants, comprising 116 classified as rare pathogenic or likely pathogenic according to ACMG guidelines. The genotype-phenotype association was impaired by the lack of detailed clinical and laboratory information, besides the unavailability of molecular and functional studies which, comprise the limitations of this study. Overall, the access to clinical exome sequencing data is limited, challenging exploratory analyses and the understanding of genetic mechanisms underlying disorders. Therefore, by making these data available, we aim to increase the number of WES data from Brazilian samples despite contributing to the study of monogenic IEI-disorders.