نتایج جستجو برای: direct sequencing

تعداد نتایج: 542795  

Journal: :Nucleic acids research 2003
Jean-Claude Nicod Carlo R Largiadèr

Despite the great potential of single nucleotide polymorphism (SNP) markers in evolutionary studies, in particular for inferring population genetic parameters, SNP analysis has almost exclusively been limited to humans and 'genomic model' organisms, due to the lack of available sequence data in non-model organisms. Here, we describe a rapid and cost effective method to isolate candidate SNPs in...

2017
Joke Muys Bettina Blaumeiser Yves Jacquemyn Katrien Janssens

In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families.

Journal: :Biophysical journal 1999
M Akeson D Branton J J Kasianowicz E Brandin D W Deamer

Single molecules of DNA or RNA can be detected as they are driven through an alpha-hemolysin channel by an applied electric field. During translocation, nucleotides within the polynucleotide must pass through the channel pore in sequential, single-file order because the limiting diameter of the pore can accommodate only one strand of DNA or RNA at a time. Here we demonstrate that this nanopore ...

2009
Vladimir Novitsky Rui Wang Lauren Margolin Jeannie Baca Lemme Kebaabetswe Raabya Rossenkhan Caitlin Bonney Michaela Herzig David Nkwe Sikhulile Moyo Rosemary Musonda Elias Woldegabriel Erik van Widenfelt Joseph Makhema Stephen Lagakos M. Essex

BACKGROUND Aiming to answer the broad question "When does mutation occur?" this study examined the time of appearance, dominance, and completeness of in vivo Gag mutations in primary HIV-1 subtype C infection. METHODS A primary HIV-1C infection cohort comprised of 8 acutely and 34 recently infected subjects were followed frequently up to 500 days post-seroconversion (p/s). Gag mutations were ...

Journal: :Current Biology 2009
John A.L. Armour

By direct sequencing of two Y chromosomes inherited from the same paternal ancestor, a landmark study has derived a good direct estimate for the rate of base substitution mutations on the human Y chromosome.

2008
Willy Valdivia-Granda

The direct sequencing of uncultivable organisms present in complex biological and environmental samples has opportunities to discover new life forms and metabolic processes. This transformational field, known as metagenomics, is generating massive amounts of molecular information that can overwhelm the performance of conventional analysis and visualization algorithms. Here, I briefly highlight ...

Journal: :Agricultural and biological chemistry 1990
T Ninomiya T Iwabuchi Y Soga A Yuki

In transgenic mice, recombinant DNAsmicroinjected into pronuclei of fertilized eggs are generally integrated into host chromosomes.1} The integration mechanism of microinjected DNA is not fully understood because of limited information concerning the structures of integrated foreign DNAs(transgenes) and their flanking chromosomalDNAs.Transgenes of a few transgenic mice and their flanking region...

2011
Anderson Nonato do Rosário Marinho Milene Raiol de Moraes Sidney Santos Ândrea Ribeiro-dos-Santos

The accumulation of somatic mutations in mtDNA is correlated with aging. In this work, we sought to identify somatic mutations in the HVS-1 region (D-loop) of mtDNA that might be associated with aging. For this, we compared 31 grandmothers (mean age: 63 ± 2.3 years) and their 62 grandchildren (mean age: 15 ± 4.1 years), the offspring of their daughters. Direct DNA sequencing showed that mutatio...

Journal: :American journal of human genetics 2002
Yong-Gang Yao Qing-Peng Kong Hans-Jürgen Bandelt Toomas Kivisild Ya-Ping Zhang

To characterize the mitochondrial DNA (mtDNA) variation in Han Chinese from several provinces of China, we have sequenced the two hypervariable segments of the control region and the segment spanning nucleotide positions 10171-10659 of the coding region, and we have identified a number of specific coding-region mutations by direct sequencing or restriction-fragment-length-polymorphism tests. Th...

Journal: :Journal of medical genetics 2003
L Stuppia G Calabrese V Gatta S Pintor E Morizio D Fantasia P Guanciali Franchi M M Rinaldi G Scarano D Concolino A Giannotti F Petreschi M T Anzellotti M Pomilio F Chiarelli S Tumini G Palka

L Stuppia, G Calabrese, V Gatta, S Pintor, E Morizio, D Fantasia, P Guanciali Franchi, M M Rinaldi, G Scarano, D Concolino, A Giannotti, F Petreschi, M T Anzellotti, M Pomilio, F Chiarelli, S Tumini, G Palka . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....

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