Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

publisher: Elsevier articletitle: Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes journaltitle: Cell articlelink: https://doi.org/10.1016/j.cell.2018.05.046 content_type: article copyright: © 2018 Elsevier Inc

Marine Geology of Kure and Midway Atolls, Hawaii: A Preliminary Report

Midway and Kure islands are the world's northernmost atolls but have flourishing algal-coral reefs with typical coral reef structures. An almost circular outer reef and a broad, shallow (< 5 meters deep), sediment-built lagoon terrace surround the deeper parts of each lagoon (maximum depths: Midway, 21 meters; Kure, 14 meters). Unconsolidated carbonate sand and gravel form islands along the southern margins of the atolls. Patch reefs form a series of intersecting ridges partly covered by sediment. Emergent parts of older presumed reef rock, built primarily of coralline algae, extend about 1 meter above sea level; they are especially well developed on Midway and are present but less conspicuous on Kure. Sediment grain size decreases lagoonward. Carbonate -gravel and coarse sands predominate on the reef flats, on the seaward sides of the islands, and on the lagoon terrace. Fine carbonate sands and silts cover the deeper parts of the lagoon bottom. Major sediment-contributing organisms are (in order of abundance): coralline algae, corals, foraminifers, and mollusks. Halimeda is nowhere a major constituent. Most sediment grains deposited in the lagoons are reef-derived, primarily from the windward reefs on the northeastern margin. There is no distinctive lagoonal sediment facies

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 x 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 x 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 x 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 x 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.</p

Biological insights from 108 schizophrenia-associated genetic loci

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia

Литература о Свердловской области: [указатель]. 1954. Вып. 3-4

0|5|Предисловие [c. 5]0|6|Схема классификации летописи литературы о Свердловской области [c. 6]0|9|Коммунистическая партия Советского Союза [c. 9]1|9|Партийное строительство. Руководство партии хозяйственным и культурным строительством [c. 9]1|15|Пропаганда и агитация. Партийное просвещение [c. 15]1|17|История Коммунистической партии Советского Союза [c. 17]0|18|ВЛКСМ. [c. 18]0|21|Пионерские организации и внешкольная работа [c. 21]0|22|История гор. Свердловска и Свердловской области [c. 22]0|23|Социалистическое строительство в Свердловской области [c. 23]0|23|Финансы [c. 23]0|24|Труд [c. 24]1|26|Профессиональные союзы [c. 26]1|27|Социалистическое соревнование. Общие материалы [c. 27]1|28|Соревнование городов [c. 28]0|28|Советское строительство [c. 28]1|28|Выборы в Верховный Совет РСФСР [c. 28]1|28|Местные органы государственной власти [c. 28]1|29|Органы юстиции. Суд и прокуратура [c. 29]0|31|Природа Свердловской области [c. 31]1|31|Геология. Палеонтология. Археология [c. 31]1|32|География [c. 32]1|32|Животный и растительный мир [c. 32]0|32|Техника. Промышленность [c. 32]1|32|История техники и промышленности [c. 32]1|33|Общие вопросы [c. 33]1|34|Производство предметов народного потребления [c. 34]1|35|Строительство. Строительные материалы. Строительная промышленность [c. 35]1|35|Строительство заводов железобетонных изделий [c. 35]1|40|Энергетическая промышленность [c. 40]1|41|Горная промышленность [c. 41]1|44|Металлургическая промышленность [c. 44]1|51|Машиностроительная промышленность [c. 51]1|57|Химическая промышленность [c. 57]1|58|Лесная промышленность [c. 58]1|60|Легкая промышленность [c. 60]1|60|Камнерезное дело [c. 60]1|61|Местная и кооперативная промышленность [c. 61]0|62|Транспорт. Связь [c. 62]1|62|Транспорт [c. 62]1|65|Связь [c. 65]0|65|Сельское хозяйство [c. 65]1|65|Свердловская область на сельскохозяйственной выставке [c. 65]1|69|Трудящиеся города — сельскому хозяйству [c. 69]1|70|Общие вопросы. Колхозы. Совхозы [c. 70]1|72|Освоение целинных и залежных земель [c. 72]1|73|Механизация. Электрификация. МТС [c. 73]1|77|Агротехника. Общее растениеводство. Почвоведение [c. 77]1|79|Частное растениеводство [c. 79]2|79|Зерновые и бобовые культуры [c. 79]2|79|Кормовые культуры . Луга. Пастбища [c. 79]2|79|Садоводство. Плодоводство [c. 79]2|80|Овощеводство [c. 80]1|82|Животноводство [c. 82]0|86|Охота. Рыбоводство [c. 86]0|86|Торговля. Общественное питание [c. 86]0|89|Гражданское строительство. Коммунальное хозяйство. Бытовое обслуживание населения [c. 89]0|91|Здравоохранение. Медицина [c. 91]0|92|Физическая культура. Спорт. Игры [c. 92]0|94|Культура. Просвещение. Наука [c. 94]1|94|Общие вопросы культуры и просвещения. Наука [c. 94]1|95|Семья и быт [c. 95]1|96|Дошкольное воспитание [c. 96]1|96|Начальное и среднее образование [c. 96]1|98|Политехническое обучение в школах [c. 98]1|98|Высшее и среднее специальное образование [c. 98]1|101|Ремесленные училища. Фабрично-заводское обучение. Технические училища [c. 101]1|102|Культурно-просветительная работа [c. 102]0|105|Литературоведение. Художественная литература. Фольклор [c. 105]1|105|Литературная критика и библиография [c. 105]1|107|Художественная литература [c. 107]2|107|Проза [c. 107]2|108|Поэзия [c. 108]2|109|Драматургия [c. 109]2|109|Фельетоны [c. 109]0|111|Искусство [c. 111]1|111|Архитектура [c. 111]1|111|Изобразительное искусство [c. 111]1|112|Театр. Зрелищные предприятия [c. 112]1|114|Музыка [c. 114]1|114|Художественная самодеятельность [c. 114]1|115|Кино [c. 115]1|115|Религия. Наука и религия. Атеизм [c. 115]1|116|Печать [c. 116

Biological insights from 108 schizophrenia-associated genetic loci

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia

Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia

Summary: Genetics have nominated many schizophrenia risk genes and identified convergent signals between schizophrenia and neurodevelopmental disorders. However, functional interpretation of the nominated genes in the relevant brain cell types is often lacking. We executed interaction proteomics for six schizophrenia risk genes that have also been implicated in neurodevelopment in human induced cortical neurons. The resulting protein network is enriched for common variant risk of schizophrenia in Europeans and East Asians, is down-regulated in layer 5/6 cortical neurons of individuals affected by schizophrenia, and can complement fine-mapping and eQTL data to prioritize additional genes in GWAS loci. A sub-network centered on HCN1 is enriched for common variant risk and contains proteins (HCN4 and AKAP11) enriched for rare protein-truncating mutations in individuals with schizophrenia and bipolar disorder. Our findings showcase brain cell-type-specific interactomes as an organizing framework to facilitate interpretation of genetic and transcriptomic data in schizophrenia and its related disorders