Distribution of runs of homozygosity in Chinese and Western pig breeds evaluated by reduced-representation sequencing data

2018 ◽  
Vol 49 (6) ◽  
pp. 579-591 ◽  
Author(s):  
Zhe Zhang ◽  
Qianqian Zhang ◽  
Qian Xiao ◽  
Hao Sun ◽  
Hongding Gao ◽  
...  
Keyword(s):  
Runs Of Homozygosity ◽  
Sequencing Data ◽  
Reduced Representation ◽  
Pig Breeds ◽  
Reduced Representation Sequencing

Degenerate adaptor sequences for detecting PCR duplicates in reduced representation sequencing data improve genotype calling accuracy

2014 ◽  
Vol 15 (2) ◽  
pp. 329-336 ◽  
Author(s):  
M. M. Y. Tin ◽  
F. E. Rheindt ◽  
E. Cros ◽  
A. S. Mikheyev
Keyword(s):  
Sequencing Data ◽  
Genotype Calling ◽  
Reduced Representation ◽  
Pcr Duplicates ◽  
Reduced Representation Sequencing

scholarly journals GBStools: A Statistical Method for Estimating Allelic Dropout in Reduced Representation Sequencing Data

PLoS Genetics ◽  
2016 ◽  
Vol 12 (2) ◽  
pp. e1005631 ◽  
Author(s):  
Thomas F. Cooke ◽  
Muh-Ching Yee ◽  
Marina Muzzio ◽  
Alexandra Sockell ◽  
Ryan Bell ◽  
...  
Keyword(s):  
Statistical Method ◽  
Sequencing Data ◽  
Allelic Dropout ◽  
Reduced Representation ◽  
Reduced Representation Sequencing

Positive selection signatures in Anqing six‐end‐white pig population based on reduced‐representation genome sequencing data

2021 ◽  
Author(s):  
L. Guo ◽  
H. Sun ◽  
Q. Zhao ◽  
Z. Xu ◽  
Z. Zhang ◽  
...  
Keyword(s):  
Positive Selection ◽  
Genome Sequencing ◽  
Population Based ◽  
Sequencing Data ◽  
Selection Signatures ◽  
Reduced Representation

scholarly journals Whole genome sequencing reveals high differentiation, low levels of genetic diversity and short runs of homozygosity among Swedish wels catfish

Heredity ◽  
2021 ◽  
Author(s):  
Axel Jensen ◽  
Mette Lillie ◽  
Kristofer Bergström ◽  
Per Larsson ◽  
Jacob Höglund
Keyword(s):  
Genetic Diversity ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome Sequencing Data ◽  
Peripheral Populations ◽  
Whole Genome ◽  
Runs Of Homozygosity ◽  
Sequencing Data ◽  
Isolated Populations ◽  
Native Populations

AbstractThe use of genetic markers in the context of conservation is largely being outcompeted by whole-genome data. Comparative studies between the two are sparse, and the knowledge about potential effects of this methodology shift is limited. Here, we used whole-genome sequencing data to assess the genetic status of peripheral populations of the wels catfish (Silurus glanis), and discuss the results in light of a recent microsatellite study of the same populations. The Swedish populations of the wels catfish have suffered from severe declines during the last centuries and persists in only a few isolated water systems. Fragmented populations generally are at greater risk of extinction, for example due to loss of genetic diversity, and may thus require conservation actions. We sequenced individuals from the three remaining native populations (Båven, Emån, and Möckeln) and one reintroduced population of admixed origin (Helge å), and found that genetic diversity was highest in Emån but low overall, with strong differentiation among the populations. No signature of recent inbreeding was found, but a considerable number of short runs of homozygosity were present in all populations, likely linked to historically small population sizes and bottleneck events. Genetic substructure within any of the native populations was at best weak. Individuals from the admixed population Helge å shared most genetic ancestry with the Båven population (72%). Our results are largely in agreement with the microsatellite study, and stresses the need to protect these isolated populations at the northern edge of the distribution of the species.

scholarly journals Long runs of homozygosity are associated with Alzheimer’s disease

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sonia Moreno-Grau ◽  
◽  
Maria Victoria Fernández ◽  
Itziar de Rojas ◽  
Pablo Garcia-González ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
European Ancestry ◽  
Runs Of Homozygosity ◽  
Sequencing Data ◽  
Outbred Population ◽  
Whole Exome ◽  
Whole Exome Sequencing Data ◽  
Outbred Populations ◽  
Recessive Effects

AbstractLong runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer’s disease (AD); however, their search has been poorly assessed to date. To investigate homozygosity in AD, here we performed a fine-scale ROH analysis using 10 independent cohorts of European ancestry (11,919 AD cases and 9181 controls.) We detected an increase of homozygosity in AD cases compared to controls [βAVROH (CI 95%) = 0.070 (0.037–0.104); P = 3.91 × 10−5; βFROH (CI95%) = 0.043 (0.009–0.076); P = 0.013]. ROHs increasing the risk of AD (OR > 1) were significantly overrepresented compared to ROHs increasing protection (p < 2.20 × 10−16). A significant ROH association with AD risk was detected upstream the HS3ST1 locus (chr4:11,189,482‒11,305,456), (β (CI 95%) = 1.09 (0.48 ‒ 1.48), p value = 9.03 × 10−4), previously related to AD. Next, to search for recessive candidate variants in ROHs, we constructed a homozygosity map of inbred AD cases extracted from an outbred population and explored ROH regions in whole-exome sequencing data (N = 1449). We detected a candidate marker, rs117458494, mapped in the SPON1 locus, which has been previously associated with amyloid metabolism. Here, we provide a research framework to look for recessive variants in AD using outbred populations. Our results showed that AD cases have enriched homozygosity, suggesting that recessive effects may explain a proportion of AD heritability.

ISSRseq: an extensible method for reduced representation sequencing

2021 ◽  
Author(s):  
Brandon T. Sinn ◽  
Sandra J. Simon ◽  
Mathilda V. Santee ◽  
Stephen P. DiFazio ◽  
Nicole M. Fama ◽  
...  
Keyword(s):  
Reduced Representation ◽  
Reduced Representation Sequencing

scholarly journals Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity

2018 ◽  
Author(s):  
Zachary A. Szpiech ◽  
Angel C.Y. Mak ◽  
Marquitta J. White ◽  
Donglei Hu ◽  
Celeste Eng ◽  
...  
Keyword(s):  
Native American ◽  
Mexican American ◽  
Complex Disease ◽  
Disease Risk ◽  
African Ancestry ◽  
Population History ◽  
Whole Genome Sequencing Data ◽  
Runs Of Homozygosity ◽  
Sequencing Data ◽  
Local Ancestry

AbstractRuns of homozygosity (ROH) are important genomic features that manifest when an individual inherits two haplotypes that are identical-by-descent. Their length distributions are informative about population history, and their genomic locations are useful for mapping recessive loci contributing to both Mendelian and complex disease risk. We have previously shown that ROH, and especially long ROH that are likely the result of recent parental relatedness, are enriched for homozygous deleterious coding variation in a worldwide sample of outbred individuals. However, the distribution of ROH in admixed populations and their relationship to deleterious homozygous genotypes is understudied. Here we analyze whole genome sequencing data from 1,441 individuals from self-identified African American, Puerto Rican, and Mexican American populations. These populations are three-way admixed between European, African, and Native American ancestries and provide an opportunity to study the distribution of deleterious alleles partitioned by local ancestry and ROH. We re-capitulate previous findings that long ROH are enriched for deleterious variation genome-wide. We then partition by local ancestry and show that deleterious homozygotes arise at a higher rate when ROH overlap African ancestry segments than when they overlap European or Native American ancestry segments of the genome. These results suggest that, while ROH on any haplotype background are associated with an inflation of deleterious homozygous variation, African haplotype backgrounds may play a particularly important role in the genetic architecture of complex diseases for admixed individuals, highlighting the need for further study of these populations.

scholarly journals Technical Considerations for Reduced Representation Bisulfite Sequencing with Multiplexed Libraries

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Aniruddha Chatterjee ◽  
Euan J. Rodger ◽  
Peter A. Stockwell ◽  
Robert J. Weeks ◽  
Ian M. Morison
Keyword(s):  
Bisulfite Sequencing ◽  
Flow Cell ◽  
Throughput Capacity ◽  
Sequencing Data ◽  
Bioinformatics Pipeline ◽  
Illumina Hiseq ◽  
Reduced Representation ◽  
Reduced Representation Bisulfite Sequencing ◽  
Unique Mapping ◽  
Nucleotide Resolution

Reduced representation bisulfite sequencing (RRBS), which couples bisulfite conversion and next generation sequencing, is an innovative method that specifically enriches genomic regions with a high density of potential methylation sites and enables investigation of DNA methylation at single-nucleotide resolution. Recent advances in the Illumina DNA sample preparation protocol and sequencing technology have vastly improved sequencing throughput capacity. Although the new Illumina technology is now widely used, the unique challenges associated with multiplexed RRBS libraries on this platform have not been previously described. We have made modifications to the RRBS library preparation protocol to sequence multiplexed libraries on a single flow cell lane of the Illumina HiSeq 2000. Furthermore, our analysis incorporates a bioinformatics pipeline specifically designed to process bisulfite-converted sequencing reads and evaluate the output and quality of the sequencing data generated from the multiplexed libraries. We obtained an average of 42 million paired-end reads per sample for each flow-cell lane, with a high unique mapping efficiency to the reference human genome. Here we provide a roadmap of modifications, strategies, and trouble shooting approaches we implemented to optimize sequencing of multiplexed libraries on an a RRBS background.

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