Results 41 to 50 of about 363,020 (279)

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain [PDF]

, 2013
Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism.
BEYSEN, DIANE, Carvalho, Claudio MB, D'haene, Barbara, De Baere, Elfride, Lapunzina, Pablo, Lupski, James R, Menten, Björn, Nevado, Julian, Novikova, Yana, Sante, Tom, Verdin, Hannah   +10 more
core   +8 more sources

Combined analysis of transposable elements and structural variation in maize genomes reveals genome contraction outpaces expansion.

PLoS Genetics, 2023
Structural differences between genomes are a major source of genetic variation that contributes to phenotypic differences. Transposable elements, mobile genetic sequences capable of increasing their copy number and propagating themselves within genomes ...
Manisha Munasinghe, Andrew Read, Michelle C Stitzer, Baoxing Song, Claire C Menard, Kristy Yubo Ma, Yaniv Brandvain, Candice N Hirsch, Nathan Springer   +8 more
doaj   +1 more source

inGAP-family: Accurate Detection of Meiotic Recombination Loci and Causal Mutations by Filtering Out Artificial Variants due to Genome Complexities

Genomics, Proteomics & Bioinformatics, 2022
Accurately identifying DNA polymorphisms can bridge the gap between phenotypes and genotypes and is essential for molecular marker assisted genetic studies.
Qichao Lian, Yamao Chen, Fang Chang, Ying Fu, Ji Qi   +4 more
doaj   +1 more source

A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. [PDF]

, 2004
Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common ...
Freimer, Nelson B, Mehan, Michael R, Ophoff, Roel A   +2 more
core   +2 more sources

Discovery of large genomic inversions using long range information. [PDF]

, 2017
BackgroundAlthough many algorithms are now available that aim to characterize different classes of structural variation, discovery of balanced rearrangements such as inversions remains an open problem.
Alkan, Can, Amemiya, Chris T, Antonacci, Francesca, Chiatante, Giorgia, Eichler, Evan E, Eslami Rasekh, Marzieh, Miroballo, Mattia, Tang, Joyce, Ventura, Mario   +8 more
core   +3 more sources

Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations

BMC Medical Genomics, 2019
Background Germline mutations in the BRCA1 and BRCA2 genes predispose carriers to breast and ovarian cancer, and there remains a need to identify the specific genomic mechanisms by which cancer evolves in these patients.
Avantika Lal, Daniele Ramazzotti, Ziming Weng, Keli Liu, James M. Ford, Arend Sidow   +5 more
doaj   +1 more source

Structural genomic variations and Parkinson's disease

Minerva Medica, 2017
Parkinson's disease (PD) is the second most common neurodegenerative disease, whose prevalence is projected to be between 8.7 and 9.3 million by 2030. Until about 20 years ago, PD was considered to be the textbook example of a "non-genetic" disorder.
Bandres-Ciga, Sara, Ruz, Clara, Barrero Hernández, Francisco Javier, Escamilla-Sevilla, Francisco, Pelegrina, Javier, Vives, Francisco, Durán, Raquel   +6 more
openaire   +3 more sources

Genome structural variation discovery and genotyping [PDF]

Nature Reviews Genetics, 2011
Comparisons of human genomes show that more base pairs are altered as a result of structural variation - including copy number variation - than as a result of point mutations. Here we review advances and challenges in the discovery and genotyping of structural variation.
Can, Alkan, Bradley P, Coe, Evan E, Eichler   +2 more
openaire   +2 more sources

Surviving a Genome Collision: Genomic Signatures of Allopolyploidization in the Recent Crop Species [PDF]

, 2017
Polyploidization has played a major role in crop plant evolution, leading to advantageous traits that have been selected by humans. Here, we describe restructuring patterns in the genome of Brassica napus L., a recent allopolyploid species.
Chalhoub, Boulos, Samans, Birgit, Snowdon, Rod J.   +2 more
core   +1 more source

Conservation and Variation in Orthopoxvirus Genome Structure

Journal of General Virology, 1979
Orthopoxvirus DNA from representative strains of rabbitpox, vaccinia, monkeypox, variola, cowpox and ectromelia viruses was analysed by cleavage with restriction endonucleases HindIII, XhoI or SmaI. Genome mol. wt. vary from about 120 x 10(6) for rabbitpox to about 145 x 10(6) for cowpox.
M, Mackett, L C, Archard
openaire   +2 more sources