Results 61 to 70 of about 129,534 (273)

Tandem repeats and G-rich sequences are enriched at human CNV breakpoints. [PDF]

PLoS ONE, 2014
Chromosome breakage in germline and somatic genomes gives rise to copy number variation (CNV) responsible for genomic disorders and tumorigenesis. DNA sequence is known to play an important role in breakage at chromosome fragile sites; however, the ...
Promita Bose, Karen E Hermetz, Karen N Conneely, M Katharine Rudd   +3 more
doaj   +1 more source

A Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long‐Read Data

Advanced Science, EarlyView.
SpecImmune introduces a unified computational framework optimized for long‐read sequencing to resolve over 400 highly polymorphic immune genes. This scalable approach achieves high‐resolution typing, enabling the discovery of cross‐family co‐evolutionary networks and population‐specific diversity.
Shuai Wang, Xuedong Wang, Mengyao Wang, Qian Zhou, Lusheng Wang, Shuai Cheng Li   +5 more
wiley   +1 more source

MATCHCLIP: Locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads

Frontiers in Genetics, 2013
Copy number variations (CNVs) are associated with many complex diseases. Next generation sequencing data enable one to identify precise CNV breakpoints to better under the underlying molecular mechanisms and to design more efficient assays.
Yinghua eWu, Lifeng eTian, Mario ePirastu, Dwight eStambolian, Hongzhe eLi   +4 more
doaj   +1 more source

Genomic instability: a stronger prognostic marker than proliferation for early stage luminal breast carcinomas. [PDF]

PLoS ONE, 2013
BACKGROUND:The accurate prognosis definition to tailor treatment for early luminal invasive breast carcinoma patients remains challenging. MATERIALS AND METHODS:Two hundred fourteen early luminal breast carcinomas were genotyped with single nucleotide ...
Anne Vincent-Salomon, Vanessa Benhamo, Eléonore Gravier, Guillem Rigaill, Nadège Gruel, Stéphane Robin, Yann de Rycke, Odette Mariani, Gaëlle Pierron, David Gentien, Fabien Reyal, Paul Cottu, Alain Fourquet, Roman Rouzier, Xavier Sastre-Garau, Olivier Delattre   +15 more
doaj   +1 more source

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

Advanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T. Saunders, Zhuanfen Cheng, Victoria Popic, Gary Peltz   +6 more
wiley   +1 more source

Precise detection of rearrangement breakpoints in mammalian chromosomes

BMC Bioinformatics, 2008
Background Genomes undergo large structural changes that alter their organisation. The chromosomal regions affected by these rearrangements are called breakpoints, while those which have not been rearranged are called synteny blocks.
Gautier Christian, Tannier Eric, Lemaitre Claire, Sagot Marie-France   +3 more
doaj   +1 more source

Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution

Advanced Science, EarlyView.
The authors complement bovine pan‐SV with massive novel structural variations (SVs) identified through long‐read sequencing of 83 globally distributed cattle breeds. Repetitive sequence‐mediated SVs (rep‐SV) exhibit distinct dynamic patterns throughout cattle sub‐speciation and/or domestication processes, including uneven distribution between chr‐X and
Zhifan Guo, Jinxiu Li, Adeniyi C. Adeola, Xueyan Jiang, Juntao Ma, Jian Xiao, Dexiang Hu, Kaixing Qu, Haihong Wu, Junren Chen, Zhanxing He, Tingting Yin, Ali Esmailizadeh, Jing Luo, Olivier Hanotte, Ya‐Ping Zhang, Yan Li   +16 more
wiley   +1 more source

Establishing Clinical and Laboratory Standards Institute M45 antimicrobial susceptibility testing methods and breakpoints for Pseudomonas other than Pseudomonas aeruginosa

Journal of Clinical Microbiology
The purpose of this study was to establish tentative Clinical and Laboratory Standards Institute (CLSI) M45 MIC and disk diffusion (DD) breakpoints (BPs) for Pseudomonas other than Pseudomonas aeruginosa (POPA).
Patricia J. Simner, Harley Harris, Emily Jacobs, Haley Stambaugh, Amira Bhalodi, Mark Fisher, Tsigereda Tekle, Jennifer Lu, Romney Humphries   +8 more
doaj   +1 more source

Clustering of Translocation Breakpoints [PDF]

Journal of the American Statistical Association, 2002
Translocation, a physical movement of genetic material from one chromosome to another, can result in the aberrant linkage of two cellular genes. This type of fusion may disrupt cellular function by producing novel, biologically active fused genes, or by triggering the activation of normally quiescent growth-associated genes.
Segal, Mark R, Wiemels, Joseph L
openaire   +3 more sources

Solid‐Like yet Reconfigurable 3D‐Printed Liquid Tubular Wires From Nonconductive Molecules

Advanced Science, EarlyView.
This work shatters the current reliance of liquid electronics on intrinsically conductive materials by introducing a novel interfacial redox strategy that transforms non‐conductive molecules into high‐performance, 3D liquid tubular wires with solid‐like electrical properties and exceptional reconfigurability. It opens a vast design space for all‐liquid
Yuchen Fu, Weixi Wu, Wei Chen, Jiangang Zhang, Biyu Jin, Sai Zhao, Yu Chai   +6 more
wiley   +1 more source