Direct and indirect recombination rate estimates provide novel insights into the landscape of crossover events in rhesus macaques

Description

Previous recombination rate estimation studies in rhesus macaques have been mostly restricted to a singular approach (e.g., using microsatellite loci). Here, we employ a bilateral method in estimating recombination rates—pedigree-based and linkage-disequilibrium-based—from whole-genome data of rhesus macaques to estimate CO…

Previous recombination rate estimation studies in rhesus macaques have been mostly restricted to a singular approach (e.g., using microsatellite loci). Here, we employ a bilateral method in estimating recombination rates—pedigree-based and linkage-disequilibrium-based—from whole-genome data of rhesus macaques to estimate CO and NCO recombination events and to compare contemporary and historical rates of recombination.

Date Created
2023-05
Agent

Direct Estimates of Recombination from Rhesus Macaque Pedigrees

165064-Thumbnail Image.png
Description

Recombination is the process of exchange between maternal and paternal chromosomal segments which gives rise to new allele combinations in the offspring. The rate of recombination refers to the chances that such crossing over events will take place. Recombination is…

Recombination is the process of exchange between maternal and paternal chromosomal segments which gives rise to new allele combinations in the offspring. The rate of recombination refers to the chances that such crossing over events will take place. Recombination is an especially important process for driving genetic diversity and therefore evolution. However, the specifics of the factors affecting the recombination frequency and how the rate itself can evolve have not been the focus of many studies in the past. The purpose of this study was to utilize sequenced genomes of parent-offspring trios of Rhesus Macaque to create a high quality dataset from which a direct, sex-specific, estimate of recombination rate can be calculated for the species.

Date Created
2022-05
Agent

Methods for Detecting Mutations in Non-model Organisms

158849-Thumbnail Image.png
Description
Next-generation sequencing is a powerful tool for detecting genetic variation. How-ever, it is also error-prone, with error rates that are much larger than mutation rates.
This can make mutation detection difficult; and while increasing sequencing depth
can often help, sequence-specific errors and…

Next-generation sequencing is a powerful tool for detecting genetic variation. How-ever, it is also error-prone, with error rates that are much larger than mutation rates.
This can make mutation detection difficult; and while increasing sequencing depth
can often help, sequence-specific errors and other non-random biases cannot be de-
tected by increased depth. The problem of accurate genotyping is exacerbated when
there is not a reference genome or other auxiliary information available.
I explore several methods for sensitively detecting mutations in non-model or-
ganisms using an example Eucalyptus melliodora individual. I use the structure of
the tree to find bounds on its somatic mutation rate and evaluate several algorithms
for variant calling. I find that conventional methods are suitable if the genome of a
close relative can be adapted to the study organism. However, with structured data,
a likelihood framework that is aware of this structure is more accurate. I use the
techniques developed here to evaluate a reference-free variant calling algorithm.
I also use this data to evaluate a k-mer based base quality score recalibrator
(KBBQ), a tool I developed to recalibrate base quality scores attached to sequencing
data. Base quality scores can help detect errors in sequencing reads, but are often
inaccurate. The most popular method for correcting this issue requires a known
set of variant sites, which is unavailable in most cases. I simulate data and show
that errors in this set of variant sites can cause calibration errors. I then show that
KBBQ accurately recalibrates base quality scores while requiring no reference or other
information and performs as well as other methods.
Finally, I use the Eucalyptus data to investigate the impact of quality score calibra-
tion on the quality of output variant calls and show that improved base quality score
calibration increases the sensitivity and reduces the false positive rate of a variant
calling algorithm.
Date Created
2020
Agent

Phage Therapy: Saguaro Cactus Soft Rot Treatment

131078-Thumbnail Image.png
Description
Phage therapy has been around for more than a century, but has regained interest in the field of medicine and holds significant potential to act as a treatment against a deadly bacterial infection in various cactus species. It was discovered…

Phage therapy has been around for more than a century, but has regained interest in the field of medicine and holds significant potential to act as a treatment against a deadly bacterial infection in various cactus species. It was discovered that bacteriophages isolated from soil samples of potato plants were able to suppress Pectobacterium carotovorum, ‘Pectobacterium’ being within the family Pectobacteriaceae which contains the ‘Erwinia’ genus that causes soft rot diseases in various plants (Jones, 2012). The two scientists had co-inoculated “... the phage with the phytobacterium” (Jones, 2012) in order to suppress the growth and prevent the infection from occurring.
Date Created
2020-05
Agent

Human Impacts on Evolution

131739-Thumbnail Image.png
Description
Humans have evolved in many ways. Just look at how life for mankind has changed over the past few decades. It is amazing how different life can be in just a short amount of time. While it is evident that…

Humans have evolved in many ways. Just look at how life for mankind has changed over the past few decades. It is amazing how different life can be in just a short amount of time. While it is evident that we have impacts of the environment, it should be just as evident that we impact the animals around us. However, there are a few subtle ways in which we impact the evolution of life.
Through man-made structures, human interference, artificial lights at night, and electromagnetic fields we have caused animals and insects to evolve and fit these new environments. While we tail the world around us to convince ourselves, the animals also living in these environments need to adapt to survive. In this essay, I will discuss how the affects mentioned above have cause crows, moths, snails, bobcats, blackbirds, mosquitoes, elephants, diurnal animals, fireflies, dung beetles, birds and bats to evolve. The adaptations these organisms made were caused by the subtle ways in which we have impact the landscapes around us.
Date Created
2020-05
Agent

The Impact of Linked Selection in Chimpanzees: A Comparative Study

128471-Thumbnail Image.png
Description

Levels of nucleotide diversity vary greatly across the genomes of most species owing to multiple factors. These include variation in the underlying mutation rates, as well as the effects of both direct and linked selection. Fundamental to interpreting the relative…

Levels of nucleotide diversity vary greatly across the genomes of most species owing to multiple factors. These include variation in the underlying mutation rates, as well as the effects of both direct and linked selection. Fundamental to interpreting the relative importance of these forces is the common observation of a strong positive correlation between nucleotide diversity and recombination rate. While indeed observed in humans, the interpretation of this pattern has been difficult in the absence of high-quality polymorphism data and recombination maps in closely related species. Here, we characterize genetic features driving nucleotide diversity in Western chimpanzees using a recently generated whole genome polymorphism data set. Our results suggest that recombination rate is the primary predictor of nucleotide variation with a strongly positive correlation. In addition, telomeric distance, regional GC-content, and regional CpG-island content are strongly negatively correlated with variation. These results are compared with humans, with both similarities and differences interpreted in the light of the estimated effective population sizes of the two species as well as their strongly differing recent demographic histories.

Date Created
2016-09-27
Agent
Subscribe to Pfeifer, Susanne