Results 81 to 90 of about 272,726 (306)
Bayesian nonparametric hidden Markov models with application to the analysis of copy-number-variation in mammalian genomes [PDF]
, 2009 We consider the development of Bayesian Nonparametric methods for product partition models such as Hidden Markov Models and change point models.
Yau, C. +3 more
core
MHC genotypes when allowing Copy Number Variation [PDF]
, 2016 MHC genotypes of 188 adults + 22 chicks allowing Copy Number Variation, in a table of 211 rows x 12 columns. Genotypes were determined from Illumina sequencing based on an algorithm that permits Copy Number Variation as described in Supporting ...
Mauck, Robert A. +11 more
core +1 more source
Germline copy number variation and ovarian cancer survival
Frontiers in Genetics, 2012 Copy number variants (CNVs) have been implicated in many complex diseases. We examined whether inherited CNVs were associated with overall survival among women with invasive epithelial ovarian cancer.
Brooke L Fridley +16 more
doaj +1 more source
Human subtelomeric copy number variations [PDF]
Cytogenetic and Genome Research, 2008 Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions (‘Subtelomeric Repeats’) comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an ...
openaire +2 more sources
Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations
FEBS Letters, EarlyView.The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas +6 more
wiley +1 more source
MHC genotypes without Copy Number Variation [PDF]
, 2016 MHC genotypes of 188 adults + 22 chicks assuming no Copy Number Variation, in a table of 211 rows x 9 columns. Genotypes were determined from Illumina sequencing based on an assumption of no Copy Number Variation as described in Supporting Information ...
Mauck, Robert A. +11 more
core +1 more source
Copy number variation in salivary amylase: A participant-based study on genetic variation. [PDF]
The Young Researcher, 2017 Amylase (AMY1) is an enzyme found in the mouth that is used to help digest carbohydrates. It has been found that the copy number of AMY1 has been positively associated with protein levels within an individual and also that individual’s population.
Phillips, E.
doaj
Mitochondrial DNA copy number variation across human cancers
eLife, 2016 Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project.
Ed Reznik +10 more
doaj +1 more source
Copy number variations among silkworms [PDF]
BMC Genomics, 2014 Abstract Background Copy number variations (CNVs), which are important source for genetic and phenotypic variation, have been shown to be associated with disease as well as important QTLs, especially in domesticated animals. However, little is known about the CNVs in silkworm. Results
Zhao, Qian +3 more
openaire +2 more sources
FEBS Letters, EarlyView.An unexpected alternative interaction site for ethyl viologen was identified in formate dehydrogenase 1 from Methylorubrum extorquens. Combined mutagenesis, kinetic analysis, and docking revealed that aromatic residues near an iron–sulfur cluster enable flavin mononucleotide‐independent electron transfer, offering a framework for engineering improved ...
Eleni G. Poloniataki, Yong Hwan Kim
wiley +1 more source