42 research outputs found
Open Problems on Central Simple Algebras
We provide a survey of past research and a list of open problems regarding
central simple algebras and the Brauer group over a field, intended both for
experts and for beginners.Comment: v2 has some small revisions to the text. Some items are re-numbered,
compared to v
Exome Sequencing in Suspected Monogenic Dyslipidemias
Abstract
BACKGROUND:
-Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We utilized this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.
METHODS AND RESULTS:
-We performed exome sequencing on 213 selected family members from 41 kindreds with suspected Mendelian inheritance of extreme levels of low-density lipoprotein (LDL) cholesterol (after candidate gene sequencing excluded known genetic causes for high LDL cholesterol families) or high-density lipoprotein (HDL) cholesterol. We used standard analytic approaches to identify candidate variants and also assigned a polygenic score to each individual in order to account for their burden of common genetic variants known to influence lipid levels. In nine families, we identified likely pathogenic variants in known lipid genes (ABCA1, APOB, APOE, LDLR, LIPA, and PCSK9); however, we were unable to identify obvious genetic etiologies in the remaining 32 families despite follow-up analyses. We identified three factors that limited novel gene discovery: (1) imperfect sequencing coverage across the exome hid potentially causal variants; (2) large numbers of shared rare alleles within families obfuscated causal variant identification; and (3) individuals from 15% of families carried a significant burden of common lipid-related alleles, suggesting complex inheritance can masquerade as monogenic disease.
CONCLUSIONS:
-We identified the genetic basis of disease in nine of 41 families; however, none of these represented novel gene discoveries. Our results highlight the promise and limitations of exome sequencing as a discovery technique in suspected monogenic dyslipidemias. Considering the confounders identified may inform the design of future exome sequencing studies
Manajemen Pengembangan Pariwisata pada Dinas Kepemudaan, Olahraga dan Pariwisata Kabupaten Konawe
Beberapa permasalahan yang di hadapi dalam proses manajemen pengembangan pariwisata pada Dinas Kepemudaan Olahraga dan Pariwisata Kabupaten Konawe yaitu rendahnya alokasi dana di sektor pariwisata, serta terbatasnya kualitas maupun kuantitas dari sumber daya manusia yang menyebabkan belum tercapainya tujuan organisasi secara keseluruhan Tujuan penelitian ini adalah mendeskripsikan Manajemen Pengembangan Pariwisata Pada Dinas Kepemudaan, Olahraga dan Pariwisata Kabupaten. Pengumpulan data dilakukan dengan cara menggunakan teknik wawancara, obeservasi dan studi dokumen. Analisis data yang digunakan secara deskriptif kualitatif. Hasil penelitian menunjukkan bahwa manajemen pengembangan pariwisata pada Dinas Kepemudaan, Olahraga dan Pariwisata Kabupaten Konawe pada dasarnya ditinjau dari proses perencanaan belum optimal karena anggaran yang masih terbatas. Dimensi pengorganisasian dapat dikatakan berjalan dengan baik walaupun dihadapkan dengan jumlah pegawai yang terbatas tetapi dengan kerjasama yang baik, hal tersebut tidak dijadikan alasan terhambatnya pelaksanaan tugas. Dimensi kepemimpinan sudah berjalan dengan baik, pimpinan senantiasa memberikan arahan dan motivasi kepada pegawai dalam bekerja. dan didalam proses pengendalian berjalan cukup baik dengan monitoring dan evaluasi secara berkal