Results 31 to 40 of about 358,877 (267)

CLOVE: classification of genomic fusions into structural variation events

open access: yesBMC Bioinformatics, 2017
Background A precise understanding of structural variants (SVs) in DNA is important in the study of cancer and population diversity. Many methods have been designed to identify SVs from DNA sequencing data.
Jan Schröder   +3 more
doaj   +1 more source

Identifying Structural Variation in Haploid Microbial Genomes from Short-Read Resequencing Data Using Breseq [PDF]

open access: yes, 2014
Mutations that alter chromosomal structure play critical roles in evolution and disease, including in the origin of new lifestyles and pathogenic traits in microbes.
Barrick, Jeffrey E.   +8 more
core   +1 more source

Comparative genomics in chicken and Pekin duck using FISH mapping and microarray analysis [PDF]

open access: yes, 2009
Background: The availability of the complete chicken (Gallus gallus) genome sequence as well as a large number of chicken probes for fluorescent in-situ hybridization (FISH) and microarray resources facilitate comparative genomic studies between chicken ...
Skinner, B.   +19 more
core   +6 more sources

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

open access: yesPLoS 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   +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

open access: yesGenomics, 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   +4 more
doaj   +1 more source

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

open access: yes, 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   +2 more
core   +1 more source

Structural and genomic variation in preterm birth [PDF]

open access: yesPediatric Research, 2016
Runs of homozygosity (ROH) are consecutive homozygous genotypes, which may result from population inbreeding or consanguineous marriages. ROH enhance the expression of recessive traits.We mapped ROH in a case control study of women delivering at term compared with women delivering at or before 34 wk gestation. Gene sets known to be important in risk of
Uzun, Alper   +6 more
openaire   +2 more sources

Inter‐varietal structural variation in grapevine genomes [PDF]

open access: yesThe Plant Journal, 2016
SummaryGrapevine (Vitis vinifera L.) is one of the world's most important crop plants, which is of large economic value for fruit and wine production. There is much interest in identifying genomic variations and their functional effects on inter‐varietal, phenotypic differences.
CARDONE, MARIA FRANCESCA   +11 more
openaire   +6 more sources

Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations

open access: yesBMC 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   +5 more
doaj   +1 more source

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy

open access: yesCell Reports, 2021
Summary: The global impact of somatic structural variants (SVs) on gene regulation in advanced tumors with complex treatment histories has been mostly uncharacterized.
Yiqun Zhang   +10 more
doaj   +1 more source

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