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A structural variation reference for medical and population genetics
2020
Nature
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As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD ...
Here we present a reference of sequence-resolved SVs constructed from 14,891 genomes across diverse global populations (54% non-European) in gnomAD. ...
Life sciences Behavioural & social sciences Ecological, evolutionary & environmental sciences For a reference copy of the document with all sections, see nature.com/documents/nr-reporting-summary-flat.pdf ...
doi:10.1038/s41586-020-2287-8
pmid:32461652
pmcid:PMC7334194
fatcat:26dckx45vrdxxegdjij6q2tpq4
Genetic diversity in black South Africans from Soweto
2013
BMC Genomics
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Limited reference data for these individuals hampers medical research and prevents thorough understanding of the underlying population substructure. ...
Our data represent a suitable reference set for southeastern Bantu-speakers, on par with a HapMap type reference population, and constitute a prelude to the Southern African Human Genome Programme. ...
The National Health Laboratory Service and the Bioinformatics unit at the University of the Witwatersrand provided the infrastructure for AM, SH and MR. ...
doi:10.1186/1471-2164-14-644
pmid:24059264
pmcid:PMC3850641
fatcat:3c2yt33eznc4hdtv4denneomxm
The population genetics of structural variation
2007
Nature Genetics
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Population genetics is central to our understanding of human variation, and by linking medical and evolutionary themes, it enables us to understand the origins and impacts of our genomic differences. ...
We summarize recent dramatic advances, describe the diverse mutational origins of chromosomal rearrangements and argue that their complexity necessitates a re-evaluation of existing population genetic ...
Coop and C. Tyler-Smith for their comments on an earlier manuscript and to D. Andrews for data processing. ...
doi:10.1038/ng2042
pmid:17597779
pmcid:PMC2716079
fatcat:qtr7ttpfdjefrhepjm4nlevvia
The Sri Lankan Genome Variation Database
2011
Sri Lanka Journal of Bio-Medical Informatics
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There is therefore a need for a central repository of this data. The SLGVD was created to fulfill this void. The SLGVD offers web based access to genetic variation information of Sri Lankan people. ...
The Sri Lankan Genome Variation Database (SLGVD) is a database of single nucleotide polymorphisms found in Sinhalese, Sri Lankan Tamils and Moors -the three major ethnic groups in Sri Lanka. ...
Acknowledgement The SLGVD was funded by funds from the Human Genetics Unit Development Fund, Faculty of Medicine, University of Colombo, Sri Lanka. ...
doi:10.4038/sljbmi.v2i1.2861
fatcat:sfkvy4vpjfchjlgofmy5a5huja
Human genetic admixture
2021
PLoS Genetics
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This process leads to subsequent shuffling of genetic ancestry through recombination, producing variation in ancestry between populations, among individuals in a population, and along the genome within ...
medical genetics. ...
Despite their ubiquity and importance, admixed populations remain understudied in population and medical genetics [11] [12] [13] , especially from a theoretical perspective. ...
doi:10.1371/journal.pgen.1009374
pmid:33705374
fatcat:5prc4rr7qveejmunmw2i2lzlpa
The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design
2018
European Journal of Human Genetics
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Aged and healthy populations are more likely to be selectively depleted of pathogenic alleles and therefore particularly suitable as a reference population for the major diseases of clinical and public ...
Allele frequency data from human reference populations is of increasing value for the filtering, interpretation, and assignment of pathogenicity to genetic variants. ...
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. ...
doi:10.1038/s41431-018-0279-z
pmid:30353151
pmcid:PMC6336775
fatcat:stg2ewiycrar3k5zo4j2nleyia
Use of GeIS for Early Diagnosis of Alcohol Sensitivity
2016
Proceedings of the 9th International Joint Conference on Biomedical Engineering Systems and Technologies
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Also, we integrate the association of genes/variations with population studies, for this way providing an early diagnosis for any disease of genetic origin. 284 ...
With SILE we perform a selective loading of genes and variations found for a specific disease from different data sources like: NCBI, dbSNP and others. ...
ACKNOWLEDGEMENTS The author thanks Ainoha Martín Mayordomo, Mercedes Rossana Fernández Alcalá, David Roldán Martínez and Edgars Groza for critically reading this manuscript. ...
doi:10.5220/0005822902840289
dblp:conf/biostec/RomanL16
fatcat:tkr5ds2lsnc6fpqwxo6lk5sqw4
Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing
2016
International Neurourology Journal
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First, NGS methods do not require a bacterial cloning procedure and prepare libraries for sequencing in a cell free system. ...
lower cost and enable population-scale genome research. ...
By comparing sequencing results to reference genomes, researchers can see the genetic variation such as single nucleotide polymorphisms (SNPs), structural variations, copy number variations, and other ...
doi:10.5213/inj.1632742.371
pmid:27915479
pmcid:PMC5169091
fatcat:utshiiliyzazlg75zpn7deryje
Different differences: The use of 'genetic ancestry' versus race in biomedical human genetic research
2010
Social Studies of Science
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This article presents findings from our ethnographic research on biomedical scientists' studies of human genetic variation and common complex disease. ...
We introduce the concept of 'genome geography', to analyze how some researchers studying human genetic variation 'locate' stretches of DNA in different places and times. ...
Nevertheless, there are disciplinary differences that made for sometimes tense interactions in the collaborations between the medical geneticists and population geneticists around EIGENSTRAT and around ...
doi:10.1177/0306312710379170
pmid:21553638
pmcid:PMC3124377
fatcat:nnl2ejdli5efxlxtfsvafa32ii
Meeting on big mutations addresses big questions in human genetics
2011
Genome Medicine
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Common CNVs e mapping and characterization of common germline structural variation is quickly becoming a mature field. ...
With sample sizes over 45,000 and over 15,000, respectively, these medical genetics projects have moved into a scale previously only obtained by the largest GWAS meta-analyses. ...
doi:10.1186/gm226
pmid:21345244
pmcid:PMC3092097
fatcat:ya7mij7y4rhrjni22qel2cvxfm
Genome diversity in Ukraine
2021
GigaScience
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To our knowledge, this study provides the largest to-date survey of genetic variation in Ukraine, creating a public reference resource aiming to provide data for medical research in a large understudied ...
The genome data have been searched for genomic variation represented in this population, and a number of variants have been reported: large structural variants, indels, copy number variations, single-nucletide ...
Acknowledgements We thank all the Ukrainian volunteers who contributed their data for the project. ...
doi:10.1093/gigascience/giaa159
pmid:33438729
pmcid:PMC7804371
fatcat:ja7wazt6bzamhc7unihbjkdzla
The Medical Genome Reference Bank: a whole-genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design
[article]
2018
bioRxiv
pre-print
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Allele frequency data from human reference populations is of increasing value for filtering and assignment of pathogenicity to genetic variants. ...
Aged and healthy populations are more likely to be selectively depleted of pathogenic alleles, and therefore particularly suitable as a reference populations for the major diseases of clinical and public ...
Reference populations are powerful filters to distinguish pathogenic from population-based genetic variation; both clinically for Mendelian disorders [1, 2] , and in research for studies of genetic disease ...
doi:10.1101/274019
fatcat:hung7ywkijhhtb4inxoi4jqjja
Finding the global in the local
[chapter]
2020
Global health and the new world order
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Acknowledgements The research for this chapter was funded by a Wellcome ...
It reveals an important slippage: from thinking about populations and population structure in the instrumental language of epidemiology -referring simply to those individuals who together make up a study ...
so-called 'population structure' in the search for correlations between diseases and genes. ...
doi:10.7765/9781526149688.00012
fatcat:dq6krsnjmrendozfnxaf2ur46a
Magnitude of Human Genetic Variations: A Mini Review
2017
International Journal of Research Studies in Medical and Health Sciences
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It is quite interesting to know how and when these genetic variations offer to a population the survival benefit under the altered situations and at what extent over time. ...
These variations are adaptive i.e. they ensure flexibility and survival of a population in the changing environment over time. ...
Use of SNPs in drug designing has offered wide applications in medical and health. 9, 11,12,13,14
Structural Variation (SV) Structural variation is generally defined as a region of DNA approximately ...
doi:10.22259/ijrsmhs.0202004
fatcat:imgqmugkoneoza7f4bfa4t36ky
Population Genetic Analysis of Modern and Ancient DNA Variations Yields New Insights Into the Formation, Genetic Structure, and Phylogenetic Relationship of Northern Han Chinese
2019
Frontiers in Genetics
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Our population genetic results from five different reference datasets indicated that Shanxi Han shares a closer phylogenetic relationship with northern-neighbors and southern ethnically close groups than ...
We addressed genetic legacy, population structure and phylogenetic relationship of northern-Han Chinese via various analyses. ...
High-Density Genetic Variations of Modern and Ancient Genomes Show Fine-Scale Population Structure of Northern Han We additionally investigated the fine-scale genetic structure of Shanxi Han by determining ...
doi:10.3389/fgene.2019.01045
pmid:31737039
pmcid:PMC6832103
fatcat:aehcdkgyjvgghbg6qb4ifmy5b4
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