214 research outputs found

    Technology dictates algorithms: Recent developments in read alignment

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    Massively parallel sequencing techniques have revolutionized biological and medical sciences by providing unprecedented insight into the genomes of humans, animals, and microbes. Modern sequencing platforms generate enormous amounts of genomic data in the form of nucleotide sequences or reads. Aligning reads onto reference genomes enables the identification of individual-specific genetic variants and is an essential step of the majority of genomic analysis pipelines. Aligned reads are essential for answering important biological questions, such as detecting mutations driving various human diseases and complex traits as well as identifying species present in metagenomic samples. The read alignment problem is extremely challenging due to the large size of analyzed datasets and numerous technological limitations of sequencing platforms, and researchers have developed novel bioinformatics algorithms to tackle these difficulties. Importantly, computational algorithms have evolved and diversified in accordance with technological advances, leading to todays diverse array of bioinformatics tools. Our review provides a survey of algorithmic foundations and methodologies across 107 alignment methods published between 1988 and 2020, for both short and long reads. We provide rigorous experimental evaluation of 11 read aligners to demonstrate the effect of these underlying algorithms on speed and efficiency of read aligners. We separately discuss how longer read lengths produce unique advantages and limitations to read alignment techniques. We also discuss how general alignment algorithms have been tailored to the specific needs of various domains in biology, including whole transcriptome, adaptive immune repertoire, and human microbiome studies

    Dense matter with eXTP

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    In this White Paper we present the potential of the Enhanced X-ray Timing and Polarimetry (eXTP) mission for determining the nature of dense matter; neutron star cores host an extreme density regime which cannot be replicated in a terrestrial laboratory. The tightest statistical constraints on the dense matter equation of state will come from pulse profile modelling of accretion-powered pulsars, burst oscillation sources, and rotation-powered pulsars. Additional constraints will derive from spin measurements, burst spectra, and properties of the accretion flows in the vicinity of the neutron star. Under development by an international Consortium led by the Institute of High Energy Physics of the Chinese Academy of Science, the eXTP mission is expected to be launched in the mid 2020s.Comment: Accepted for publication on Sci. China Phys. Mech. Astron. (2019

    Cutaneous tuberculosis: Retrospective analysis of 64 cases

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    Deri tüberkülozu, gelişmiş ülkelerde önemli ölçüde azalmış olmakla birlikte, özellikle Asya ve Afrika ülkelerinde günümüze değin görülmeyi sürdürmüştür. Yirminci yüzyılın ikinci yarısında Türkiye'nin çeşitli bölgelerinden deri tüberkülozu olgu serileri bildirilmiştir. Skrofuloderma, lupus vulgaris ve tüberkülozis verrükoza kutis en sık görülen deri tüberkülozu tipleri olarak dikkat çekmekte ve hastalık coğrafi bölgelere göre farklı klinik özellikler gösterebilmektedir. Çalışmamızda, 1988-2000 yılları arasında istanbul Tıp Fakültesi Dermatoloji Anabilim Dalı'nda deri tüberkülozu tanısı konulan 64 olgu retrospektif olarak değerlendirildi. Hastalığın epidemiyolojik ve bazı klinik özellikleri incelendi. Çalışma süresinin sonuna doğru deri tüberkülozunda bir azalma eğilimi olduğu dikkat çekti. Lupus vulgaris diğer tiplere göre oldukça sık (%79.8) görülürken, skrofuloderma ikinci sırada (%15.6) yer aldı, tüberkülozis verrükoza kutis ise oldukça seyrek bulundu (%4.6). Çalışma grubunda lupus vulgaris en sık yanakta, skrofuloderma ise en sık boyunda yerleşmişti.Background and design: Though the incidence of cutaneous tuberculosis is decreased in developed countries, it is still prevalent in Asian and African countries. Many cases with cutaneous tuberculosis were reported from various regions of Turkey in the second part of the 20th century. The clinical forms of cutaneous tuberculosis may show some differences depending on the geographic distribution. Materials and Methods: Sixty-four cases of cutaneous tuberculosis diagnosed from January 1988 to December 2000 in the Dermatology department of Istanbul Medical Faculty were studied retrospectively. The epidemiologic and some clinical features of the disease were investigated. Results: The number of cutaneous tuberculosis cases showed tendency to decrease during this period. Lupus vulgaris was the most common clinical form (79.8 %) of the disease and this was followed by scrofuloderma (15.6 %) and tuberculosis verrucosa cutis (4.6 %). Lupus vulgaris lesions had a predilection for the cheek and scrofuloderma lesions had a predilection for the neck. Conclusions: Cutaneous tuberculosis still continues to be encountered in the Dermatology clinics in Turkey but with a decreasing frequency. Lupus vulgaris seems to be the most commmon form of the disease in Istanbul

    Endocrine Pathology

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    Klinik Teşhis

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    Dermatolojide Algoritmik Tanı

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