نتایج جستجو برای: resequencing

تعداد نتایج: 2156  

Journal: :NAR Genomics and Bioinformatics 2020

2015
Yao Wang Yazhou Cui Xiaoyan Zhou Jinxiang Han

OBJECTIVE Osteogenesis imperfecta (OI) is a rare inherited skeletal disease, characterized by bone fragility and low bone density. The mutations in this disorder have been widely reported to be on various exonal hotspots of the candidate genes, including COL1A1, COL1A2, CRTAP, LEPRE1, and FKBP10, thus creating a great demand for precise genetic tests. However, large genome sizes make the proces...

2014
Ilaria Caraccio Alexander Pechinkin Rostislav Razumchik

Resequencing issue is a crucial issue in simultaneous processing systems where the order of customers (jobs, units) upon arrival has to be preserved upon departure. In this paper stationary characteristics of M/M/3/∞ queueing system with reordering buffer of infinite capacity are being analyzed. Noticing that customer in reordering buffer may form two separate queues, focus is given to the stud...

2002
Yoav Nebat Moshe Sidi

Several recent studies have proposed methods to accelerate the receipt of a file by downloading its parts from different servers in parallel. This paper formulates models for an approach based on receiving only one copy of each of the data packets in a file, while different packets may be obtained from different sources. This approach guarantees faster downloads with lower network use. However,...

2003
Dekel Tsur

We study the problem of finding the sequence of an unknown DNA fragment given the set of its k-long subsequences and a homologous sequence, namely a sequence that is similar to the target sequence. Such a sequence is available in some applications, e.g., when detecting single nucleotide polymorphisms. Pe’er and Shamir studied this problem and presented a heuristic algorithm for it. In this pape...

Journal: :Archives of neurology 2008
Yuji Takahashi Naomi Seki Hiroyuki Ishiura Jun Mitsui Takashi Matsukawa Atsushi Kishino Osamu Onodera Masashi Aoki Nobuyuki Shimozawa Shigeo Murayama Yasuto Itoyama Yasuyuki Suzuki Gen Sobue Masatoyo Nishizawa Jun Goto Shoji Tsuji

BACKGROUND Comprehensive resequencing of the causative and disease-related genes of neurodegenerative diseases is expected to enable (1) comprehensive mutational analysis of familial cases, (2) identification of sporadic cases with de novo or low-penetrant mutations, (3) identification of rare variants conferring disease susceptibility, and ultimately (4) better understanding of the molecular b...

Journal: :Proceedings of the National Academy of Sciences 2009

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