Oxytocin receptor single nucleotide polymorphism predicts atony-related postpartum hemorrhage
Background Postpartum hemorrhage remains a key contributor to overall maternal morbidity in the United States. Current clinical assessment methods used to predict postpartum hemorrhage are unable to prospectively identify about 40% of hemorrhage cases ...
Elise N. Erickson+4 more
doaj +1 more source
Suffix Arrays for Spaced-SNP Databases [PDF]
Single-nucleotide polymorphisms (SNPs) account for most variations between human genomes. We show how, if the genomes in a database differ only by a reasonable number of SNPs and the substrings between those SNPs are unique, then we can store a fast compressed suffix array for that database.
arxiv
The unmasking of Mitochondrial Adam and Structural Variants larger than point mutations as stronger candidates for traits, disease phenotype and sex determination [PDF]
Background: Structural Variations, SVs, in a genome can be linked to a disease or characteristic phenotype. The variations come in many types and it is a challenge, not only determining the variations accurately, but also conducting the downstream statistical and analytical procedure.
arxiv
Single nucleotide polymorphism discovery from wheat next-generation sequence data.
Single nucleotide polymorphisms (SNPs) are the most abundant type of molecular genetic marker and can be used for producing high-resolution genetic maps, marker-trait association studies and marker-assisted breeding. Large polyploid genomes such as wheat
Kaitao Lai+13 more
semanticscholar +1 more source
A 3D Genome Atlas of Genetic Variants and Their Pathological Effects in Cancer
The hierarchical organization of the eukaryotic genome is vital for nuclear function, and disruptions from genetic mutations can alter this 3D architecture. Cataloging thousands of interchromosomal translocations, structural variants, and single nucleotide polymorphisms, their impact on 3D genome organization is revealed. The scoring algorithm, 3DFunc,
Li Tang+6 more
wiley +1 more source
New outcomes in mutation rates analysis [PDF]
The GC-content is very variable in different genome regions and species but although many hypothesis we still do not know the reason why. Here we show that a relationship exists with the mutation rate, in particular we noticed a new recurrence in the amino acids coding table.
arxiv
Pharmacogenetics: Role of Single Nucleotide Polymorphisms
Genome sequencing methods have basically similar algorithms, although they show a few differences between the platforms. The human genome contains approximately three billion base pairs, and this amount is huge and therefore impossible to sequence at one step. However, this amount is not a problem for developed technology.
YÜCESAN, Emrah, ÖZTEN KANDAŞ, NUR
openaire +5 more sources
Single nucleotide polymorphisms as a prerequisite for autoantigens [PDF]
AbstractIt is still elusive why certain self proteins induce an autoimmune response. One immunological hypothesis is that only modified or altered self‐proteins may become a target. Thus, we asked whether such alterations may actually be genetic polymorphisms that can be revealed by analyzing sequence variability in the known human autoantigens. Indeed,
Sarah Luginbühl+4 more
openaire +3 more sources
NF2 is Essential for Human Endoderm Development
This study demonstrates that NF2, moesin‐ezrin‐radixin like (MERLIN) tumor suppressor (NF2) is essential for human endoderm formation. NF2 knockout human induced pluripotent stem cells fail to form endoderm both in vitro and in vivo due to yes‐associated protein 1 (YAP1) nuclear translocation, redirecting differentiation toward myofibroblast‐like cells.
Minjin Jeong+5 more
wiley +1 more source
Polymorphisms of melatonin receptor genes and their associations with egg production traits in Shaoxing duck [PDF]
Objective In birds, three types of melatonin receptors (MTNR1A, MTNR1B, and MTNR1C) have been cloned. Previous researches have showed that three melatonin receptors played an essential role in reproduction and ovarian physiology. However, the association
Peishi Feng+5 more
doaj +1 more source