The sequences of 150,119 genomes in the UK Biobank

Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data(1,2). Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank(3). This constitutes a set of high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels. This large set of variants allows us to characterize selection based on sequence variation within a population through a depletion rank score of windows along the genome. Depletion rank analysis shows that coding exons represent a small fraction of regions in the genome subject to strong sequence conservation. We define three cohorts within the UK Biobank: a large British Irish cohort, a smaller African cohort and a South Asian cohort. A haplotype reference panel is provided that allows reliable imputation of most variants carried by three or more sequenced individuals. We identified 895,055 structural variants and 2,536,688 microsatellites, groups of variants typically excluded from large-scale whole-genome sequencing studies. Using this formidable new resource, we provide several examples of trait associations for rare variants with large effects not found previously through studies based on whole-exome sequencing and/or imputation

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.

To access publisher's full text version of this article click on the hyperlink belowLong-read sequencing (LRS) promises to improve the characterization of structural variants (SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs per individual (a median of 13,353 insertions and 9,474 deletions). We discovered a set of 133,886 reliably genotyped SV alleles and imputed them into 166,281 individuals to explore their effects on diseases and other traits. We discovered an association of a rare deletion in PCSK9 with lower low-density lipoprotein (LDL) cholesterol levels, compared to the population average. We also discovered an association of a multiallelic SV in ACAN with height; we found 11 alleles that differed in the number of a 57-bp-motif repeat and observed a linear relationship between the number of repeats carried and height. These results show that SVs can be accurately characterized at the population scale using LRS data in a genome-wide non-targeted approach and demonstrate how SVs impact phenotypes

CSES Module 3 Full Release

The module was administered as a post-election interview. The resulting data are provided along with voting, demographic, district and macro variables in a single dataset. CSES Variable List The list of variables is being provided on the CSES Website to help in understanding what content is available from CSES, and to compare the content available in each module. Themes: MICRO-LEVEL DATA: Identification and study administration variables: weighting factors; election type; date of election 1st and 2nd round; study timing (post election study, pre-election and post-election study, between rounds of majoritarian election); mode of interview; gender of interviewer; date questionnaire administered; primary electoral district of respondent; number of days the interview was conducted after the election Demography: age; gender; education; marital status; union membership; union membership of others in household; business association membership, farmers´ association membership; professional association membership; current employment status; main occupation; socio economic status; employment type - public or private; industrial sector; current employment status, occupation, socio economic status, employment type - public or private, and industrial sector of spouse; household income; number of persons in household; number of children in household under the age of 18; attendance at religious services; religiosity; religious denomination; language usually spoken at home; race; ethnicity; region of residence; rural or urban residence Survey variables: most important issues of election; candidates competencies to deal with most important issues; difference who is in power and who people vote for; evaluation of governments performance; party and leader that represent respondent´s view best; sympathy scale for selected parties and political leaders; assessment of parties and political leaders on a left-right-scale; self-assessment on a left-right-scale; differences of choice options; campaign involvement; satisfaction with democracy; party identification; intensity of party identification; respondent cast a ballot at the current and the previous election; vote choice (presidential, lower house and upper house elections) at the current and the previous election; respondent cast candidate preference vote at the current and the previous election; political information items DISTRICT-LEVEL DATA: number of seats contested in electoral district; number of candidates; number of party lists; percent vote of different parties; official voter turnout in electoral district MACRO-LEVEL DATA: election outcomes by parties in current (lower house/upper house) legislative election; percent of seats in lower house received by parties in current lower house/upper house election; percent of seats in upper house received by parties in current lower house/upper house election; percent of votes received by presidential candidate of parties in current elections; electoral turnout; party of the president and the prime minister before and after the election; number of portfolios held by each party in cabinet, prior to and after the most recent election; size of the cabinet after the most recent election; number of parties participating in election; ideological families of parties; left-right position of parties assigned by experts and alternative dimensions; most salient factors in the election; fairness of the election; formal complaints against national level results; election irregularities reported; scheduled and held date of election; irregularities of election date; extent of election violence and post election violence; geographic concentration of violence; post-election protest; electoral alliances permitted during the election campaign; existing electoral alliances; requirements for joint party lists; possibility of apparentement and types of apparentement agreements; multi-party endorsements on ballot; votes cast; voting procedure; voting rounds; party lists close, open, or flexible; transferable votes; cumulated votes if more than one can be cast; compulsory voting; party threshold; unit for the threshold; freedom house rating; democracy-autocracy polity IV rating; age of the current regime; regime: type of executive; number of months since last lower house and last presidential election; electoral formula for presidential elections; electoral formula in all electoral tiers (majoritarian, proportional or mixed); for lower and upper houses was coded: number of electoral segments; linked electoral segments; dependent formulae in mixed systems; subtypes of mixed electoral systems; district magnitude (number of members elected from each district); number of secondary and tertiary electoral districts; fused vote; size of the lower house; GDP growth (annual percent); GDP per capita; inflation, GDP Deflator (annual percent); Human development index; total population; total unemployment; constitutional federal structure; number of legislative chambers; electoral results data available; effective number of electoral and parliamentary partie

CSES Module 3 Full Release

The module was administered as a post-election interview. The resulting data are provided along with voting, demographic, district and macro variables in a single dataset. CSES Variable List The list of variables is being provided on the CSES Website to help in understanding what content is available from CSES, and to compare the content available in each module. Themes: MICRO-LEVEL DATA: Identification and study administration variables: weighting factors; election type; date of election 1st and 2nd round; study timing (post election study, pre-election and post-election study, between rounds of majoritarian election); mode of interview; gender of interviewer; date questionnaire administered; primary electoral district of respondent; number of days the interview was conducted after the election Demography: age; gender; education; marital status; union membership; union membership of others in household; business association membership, farmers´ association membership; professional association membership; current employment status; main occupation; socio economic status; employment type - public or private; industrial sector; current employment status, occupation, socio economic status, employment type - public or private, and industrial sector of spouse; household income; number of persons in household; number of children in household under the age of 18; attendance at religious services; religiosity; religious denomination; language usually spoken at home; race; ethnicity; region of residence; rural or urban residence Survey variables: most important issues of election; candidates competencies to deal with most important issues; difference who is in power and who people vote for; evaluation of governments performance; party and leader that represent respondent´s view best; sympathy scale for selected parties and political leaders; assessment of parties and political leaders on a left-right-scale; self-assessment on a left-right-scale; differences of choice options; campaign involvement; satisfaction with democracy; party identification; intensity of party identification; respondent cast a ballot at the current and the previous election; vote choice (presidential, lower house and upper house elections) at the current and the previous election; respondent cast candidate preference vote at the current and the previous election; political information items DISTRICT-LEVEL DATA: number of seats contested in electoral district; number of candidates; number of party lists; percent vote of different parties; official voter turnout in electoral district MACRO-LEVEL DATA: election outcomes by parties in current (lower house/upper house) legislative election; percent of seats in lower house received by parties in current lower house/upper house election; percent of seats in upper house received by parties in current lower house/upper house election; percent of votes received by presidential candidate of parties in current elections; electoral turnout; party of the president and the prime minister before and after the election; number of portfolios held by each party in cabinet, prior to and after the most recent election; size of the cabinet after the most recent election; number of parties participating in election; ideological families of parties; left-right position of parties assigned by experts and alternative dimensions; most salient factors in the election; fairness of the election; formal complaints against national level results; election irregularities reported; scheduled and held date of election; irregularities of election date; extent of election violence and post election violence; geographic concentration of violence; post-election protest; electoral alliances permitted during the election campaign; existing electoral alliances; requirements for joint party lists; possibility of apparentement and types of apparentement agreements; multi-party endorsements on ballot; votes cast; voting procedure; voting rounds; party lists close, open, or flexible; transferable votes; cumulated votes if more than one can be cast; compulsory voting; party threshold; unit for the threshold; freedom house rating; democracy-autocracy polity IV rating; age of the current regime; regime: type of executive; number of months since last lower house and last presidential election; electoral formula for presidential elections; electoral formula in all electoral tiers (majoritarian, proportional or mixed); for lower and upper houses was coded: number of electoral segments; linked electoral segments; dependent formulae in mixed systems; subtypes of mixed electoral systems; district magnitude (number of members elected from each district); number of secondary and tertiary electoral districts; fused vote; size of the lower house; GDP growth (annual percent); GDP per capita; inflation, GDP Deflator (annual percent); Human development index; total population; total unemployment; constitutional federal structure; number of legislative chambers; electoral results data available; effective number of electoral and parliamentary partiesDas Modul wurde als Nachwahl-Befragung durchgeführt. Die daraus resultierenden Daten werden mit Daten über das Abstimmungsverhalten, demographischen Daten, und Variablen auf Wahlkreis- und Länderebene in einem einzelnen Datensatz bereitgestellt. CSES Variable List Eine Liste aller Variablen wird auf der Webseite des CSES bereitgestellt. Sie verdeutlicht, welche Inhalte über das CSES verfügbar sind und erlaubt es die Inhalte über verschiedene Module des CSES zu vergleichen. Themen: INDIVIDUALDATEN: Technische Variablen: Gewichtungsvariablen; Art der Wahl; Datum der Wahl 1. und 2. Wahlgang; Zeitpunkt der Studie (Nachwahlbefragung, Vorwahlbefragung und Nachwahlbefragung, Zwischen Wahlgängen in Mehrheitswahlsystemen); Erhebungsmodus; Geschlecht des Interviewers; Datum der Datenerhebung; Wahlkreis des Befragten; Anzahl der Tage zwischen Wahltag und Interview. Demographie: Alter; Geschlecht; Bildung; Familienstand; Gewerkschaftsmitgliedschaft; Gewerkschaftsmitgliedschaft anderer Haushaltsmitglieder; Mitgliedschaft in einem Unternehmerverband; Mitgliedschaft in Bauernverband; Mitgliedschaft in Berufsverband; Erwerbsstatus; Beruf; sozioökonomischer Status; Beschäftigungsform (öffentlicher oder privater Sektor, industrieller Sektor); Erwerbsstatus des Partners; Beruf des Partners; sozioökonomischer Status des Partners; Beschäftigungsform (öffentlicher oder privater Sektor, industrieller Sektor) des Partners; Haushaltseinkommen; Anzahl Personen im Haushalt; Anzahl Kinder im Haushalt; Anzahl Kinder unter 18 im Haushalt; Kirchgangshäufigkeit; Religiosität; Konfessionsmitgliedschaft; Haushaltssprache; Rasse; ethnische Zugehörigkeit; Wohnort; ländliches oder städtisches Wohnumfeld. Befragungsvariablen: Wichtigste Themen der Wahl; Beurteilung der Kandidatenkompetenz im Umgang mit wichtigsten Themen der Wahl; Relevanz von Wahlen für Politikgestaltung; Bedeutung der eigenen Stimme für Politikgestaltung; Beurteilung der Leistung der Regierung; Partei und Spitzenpolitiker, die am besten für die Meinung des Befragten stehen; Sympathie-Skalometer für ausgewählte Parteien und Spitzenpolitiker; Einstufung von Parteien und Spitzenpolitikern auf einem Links-Rechts -Kontinuum; Selbsteinstufung auf Links-Rechts-Skala; wahrgenommene Unterschiede zwischen den zur Wahl stehenden Optionen; Beteiligung an der Wahlkampagne; Demokratiezufriedenheit; Parteiidentifikation; Intensität der Parteiidentifikation; Teilnahme bei der aktuellen und der letzten Wahl; Wahlentscheidung ( Präsidentschafts-, Unterhaus und Oberhauswahlen ) in der aktuellen und der letzten Wahl; Befragter hat Stimme für bevorzugten Kandidaten abgegeben; politische Informiertheit. WAHLKREISDATEN: Anzahl der zu vergebenden Sitze im Wahlkreis; Anzahl der Kandidaten im Wahlkreis; Anzahl der Parteilisten; Prozentanteil der Parteien (Wahlergebnis); Wahlbeteiligung im Wahlkreis. LÄNDERDATEN: Wahlergebnisse der Parteien bei der aktuellen Parlamentswahl (Unterhaus / Oberhaus); Anteil der von den Parteien erhaltenen Sitze im Unterhaus; Anteil der von den Parteien erhaltenen Sitze im Oberhaus; Anteil der Stimmen der Präsidentschaftskandidaten der Parteien bei der aktuellen Wahl; Wahlbeteiligung; Parteizugehörigkeit des Präsidenten und des Ministerpräsidenten vor und nach der Wahl; Anzahl der von jeder Partei gehaltenen Kabinettsposten vor und nach der letzten Wahl; Größe des Kabinetts nach der letzten Wahl; Anzahl der an der Wahl teilnehmenden Parteien; ideologische Parteifamilien; durch Experten zugeordnete Links-Rechts-Position der Parteien und alternative Dimensionen des Parteienwettbewerbs; bedeutendste Faktoren bei der Wahl; Fairness der Wahl; formelle Beschwerden gegen die Ergebnisse auf nationaler Ebene; Unregelmäßigkeiten bei den Wahlen; geplanter und tatsächlicher Wahltermin; Unregelmäßigkeiten des Wahltermins; Umfang von Gewalt während und nach der Wahl; geographische Konzentration von Gewalt; Protest nach der Wahl; Möglichkeit zu Wahlbündnisse im Wahlkampf; existierende Wahlbündnisse; Voraussetzungen für gemeinsame Parteilisten; Möglichkeit von Koalitionen ; Art der Vereinbarungen über Wahlbündnisse; Mehrparteien-Vermerke auf Stimmzetteln; Anzahl abgegebener Stimmen; Abstimmungsverfahren; Anzahl der Wahlgänge; Parteilisten geschlossen, offen oder flexibel; Stimmen übertragbar; Stimmen kumulierbar; Wahlpflicht; Sperrklausel; Einheit der Sperrklausel; Freedom House Rating; Polity-IV Klassifikation (Demokratie-Autokratie); Alter des gegenwärtigen Regimes; Eigenschaften des Regimes: Art der Exekutive, Anzahl der Monate seit den letzten Unterhauswahl und Präsidentschaftswahl; Wahlsystem bei Präsidentschaftswahlen, Wahlsystem für alle Wahlebenen (Mehrheitswahlrecht, Verhältniswahlrecht oder Mischformen); für Unter-und Oberhäuser wurde codiert: Anzahl der Wahlsegmente, verknüpfte Wahlsegmente, Unterformen von Mischwahlsystemen, Größenordnung des Bezirks (Anzahl der aus jedem Bezirk gewählten Mitglieder), Anzahl der sekundären und tertiären Wahlkreise, Stimmabgabe für Parteienbündnisse; Größe des Unterhauses; Wachstum des Bruttoinlandsprodukt (BIP) in Prozent; BIP pro Kopf; Inflationsrate, BIP- Deflator; Human-Development-Index; Gesamtbevölkerung; Arbeitslosigkeit absolut; föderale Verfassungsstruktur; Anzahl der gesetzgebenden Kammern; Verfügbarkeit der Wahlergebnisse; effektive Anzahl der Wahl- und Parlamentsparteien

CSES Module 3 Full Release

The module was administered as a post-election interview. The resulting data are provided along with voting, demographic, district and macro variables in a single dataset. CSES Variable List The list of variables is being provided on the CSES Website to help in understanding what content is available from CSES, and to compare the content available in each module. Themes: MICRO-LEVEL DATA: Identification and study administration variables: weighting factors; election type; date of election 1st and 2nd round; study timing (post election study, pre-election and post-election study, between rounds of majoritarian election); mode of interview; gender of interviewer; date questionnaire administered; primary electoral district of respondent; number of days the interview was conducted after the election Demography: age; gender; education; marital status; union membership; union membership of others in household; business association membership, farmers´ association membership; professional association membership; current employment status; main occupation; socio economic status; employment type - public or private; industrial sector; current employment status, occupation, socio economic status, employment type - public or private, and industrial sector of spouse; household income; number of persons in household; number of children in household under the age of 18; attendance at religious services; religiosity; religious denomination; language usually spoken at home; race; ethnicity; region of residence; rural or urban residence Survey variables: most important issues of election; candidates competencies to deal with most important issues; difference who is in power and who people vote for; evaluation of governments performance; party and leader that represent respondent´s view best; sympathy scale for selected parties and political leaders; assessment of parties and political leaders on a left-right-scale; self-assessment on a left-right-scale; differences of choice options; campaign involvement; satisfaction with democracy; party identification; intensity of party identification; respondent cast a ballot at the current and the previous election; vote choice (presidential, lower house and upper house elections) at the current and the previous election; respondent cast candidate preference vote at the current and the previous election; political information items DISTRICT-LEVEL DATA: number of seats contested in electoral district; number of candidates; number of party lists; percent vote of different parties; official voter turnout in electoral district MACRO-LEVEL DATA: election outcomes by parties in current (lower house/upper house) legislative election; percent of seats in lower house received by parties in current lower house/upper house election; percent of seats in upper house received by parties in current lower house/upper house election; percent of votes received by presidential candidate of parties in current elections; electoral turnout; party of the president and the prime minister before and after the election; number of portfolios held by each party in cabinet, prior to and after the most recent election; size of the cabinet after the most recent election; number of parties participating in election; ideological families of parties; left-right position of parties assigned by experts and alternative dimensions; most salient factors in the election; fairness of the election; formal complaints against national level results; election irregularities reported; scheduled and held date of election; irregularities of election date; extent of election violence and post election violence; geographic concentration of violence; post-election protest; electoral alliances permitted during the election campaign; existing electoral alliances; requirements for joint party lists; possibility of apparentement and types of apparentement agreements; multi-party endorsements on ballot; votes cast; voting procedure; voting rounds; party lists close, open, or flexible; transferable votes; cumulated votes if more than one can be cast; compulsory voting; party threshold; unit for the threshold; freedom house rating; democracy-autocracy polity IV rating; age of the current regime; regime: type of executive; number of months since last lower house and last presidential election; electoral formula for presidential elections; electoral formula in all electoral tiers (majoritarian, proportional or mixed); for lower and upper houses was coded: number of electoral segments; linked electoral segments; dependent formulae in mixed systems; subtypes of mixed electoral systems; district magnitude (number of members elected from each district); number of secondary and tertiary electoral districts; fused vote; size of the lower house; GDP growth (annual percent); GDP per capita; inflation, GDP Deflator (annual percent); Human development index; total population; total unemployment; constitutional federal structure; number of legislative chambers; electoral results data available; effective number of electoral and parliamentary partie