Results 41 to 50 of about 26,352 (303)

de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project

open access: yesHuman Mutation, Volume 43, Issue 12, Page 1979-1993, December 2022., 2022
Abstract Detection of de novo variants (DNVs) is critical for studies of disease‐related variation and mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based workflow. We applied our workflow to whole‐genome sequencing data from three parent‐child sequenced cohorts including the Simons Simplex Collection (SSC), Simons
Jeffrey K. Ng   +16 more
wiley   +1 more source

Variation in the CENP-A sequence association landscape across diverse inbred mouse strains

open access: yesCell Reports, 2023
Summary: Centromeres are crucial for chromosome segregation, but their underlying sequences evolve rapidly, imposing strong selection for compensatory changes in centromere-associated kinetochore proteins to assure the stability of genome transmission ...
Uma P. Arora   +2 more
doaj  

Electronic transport and localization in short and long DNA [PDF]

open access: yesModern Methods for Theoretical Physical Chemistry of Biopolymers (pp. 407-427), 2006, 2005
The question of whether DNA conducts electric charges is intriguing to physicists and biologists alike. The suggestion that electron transfer/transport in DNA might be biologically important has triggered a series of experimental and theoretical investigations.
arxiv   +1 more source

Atypical centromeres in plants – what they can tell us

open access: yesFrontiers in Plant Science, 2015
The centromere, visible as the primary constriction of condensed metaphase chromosomes, is a defined chromosomal locus essential for genome stability. It mediates transient assembly of a multi-protein complex, the kinetochore, which enables interaction ...
Maria eCuacos   +2 more
doaj   +1 more source

RNAi is a critical determinant of centromere evolution in closely related fungi

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2018
Significance The “centromere paradox” refers to rapidly evolving and highly diverse centromere DNA sequences even in closely related eukaryotes. However, factors contributing to this rapid divergence are largely unknown.
V. Yadav   +9 more
semanticscholar   +1 more source

Sequential assembly of centromeric proteins in male mouse meiosis. [PDF]

open access: yesPLoS Genetics, 2009
The assembly of the mitotic centromere has been extensively studied in recent years, revealing the sequence and regulation of protein loading to this chromosome domain. However, few studies have analyzed centromere assembly during mammalian meiosis. This
María Teresa Parra   +6 more
doaj   +1 more source

Point centromere activity requires an optimal level of centromeric noncoding RNA

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2019
Significance Budding yeast harbors a simple point centromere, which is originally believed to be sequence dependent without much epigenetic regulation and is transcription incompatible, as inserting a strong promoter upstream inactivates the centromere ...
Y. Ling, K. Yuen
semanticscholar   +1 more source

Real-Time Monitoring of Fluorescence in situ Hybridization (FISH) Kinetics [PDF]

open access: yespublished 2018, 2018
We present a novel method for real-time monitoring and kinetic analysis of fluorescence in situ hybridization (FISH). We implement the method using a vertical microfluidic probe containing a microstructure designed for rapid switching between a probe solution and a non-fluorescent imaging buffer.
arxiv   +1 more source

Epigenetically-inherited centromere and neocentromere DNA replicates earliest in S-phase. [PDF]

open access: yesPLoS Genetics, 2010
Eukaryotic centromeres are maintained at specific chromosomal sites over many generations. In the budding yeast Saccharomyces cerevisiae, centromeres are genetic elements defined by a DNA sequence that is both necessary and sufficient for function ...
Amnon Koren   +5 more
doaj   +1 more source

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