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Population Structure, Stratification and Introgression of Human Structural Variation
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
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How do pathogens drive the evolution of paired receptors?
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Fluorescence In Situ Hybridization onto DNA Fibres Generated Using Molecular Combing
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Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation
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Global Analysis of Host-Pathogen Interactions that Regulate Early-Stage HIV-1 Replication
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Analysis of Human Sequence Data Reveals Two Pulses of Archaic Denisovan Admixture
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Characterizing the Major Structural Variant Alleles of the Human Genome
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The Missing Diversity in Human Genetic Studies
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The Helicase Aquarius/EMB-4 Is Required to Overcome Intronic Barriers to Allow Nuclear RNAi Pathways to Heritably Silence Transcription
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Hydroxy-Carboxylic Acid Receptor Actions in Metabolism
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High frequencies of α-thalassaemia are the result of natural selection by malaria
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Global variation in copy number in the human genome
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The genomic signature of dog domestication reveals adaptation to a starch-rich diet
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The complete genome sequence of a Neanderthal from the Altai Mountains
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Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA
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An integrated map of structural variation in 2,504 human genomes
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The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
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Variation graph toolkit improves read mapping by representing genetic variation in the reference
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Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
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The Genotype-Tissue Expression (GTEx) project
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Large multiallelic copy number variations in humans
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African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
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Principal components analysis corrects for stratification in genome-wide association studies
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De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations
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Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software
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GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
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Assembly of a pan-genome from deep sequencing of 910 humans of African descent
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The maltase-glucoamylase gene: Common ancestry to sucrase-isomaltase with complementary starch digestion activities
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Epidemiology of human African trypanosomiasis.
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In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified
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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
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Fast and accurate short read alignment with Burrows–Wheeler transform
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BEDOPS: high-performance genomic feature operations
inferredcites →https://doi.org/10.1093/bioinformatics/btv710openalex-snapshot
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
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karyoploteR: an R/Bioconductor package to plot customizable genomes displaying arbitrary data
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Discovery of Siglec‐14, a novel sialic acid receptor undergoing concerted evolution with Siglec‐5 in primates
inferredcites →https://doi.org/10.1101/193144openalex-snapshot
Multi-platform discovery of haplotype-resolved structural variation in human genomes
inferredcites →https://doi.org/10.1101/393694openalex-snapshot
Discovery of tandem and interspersed segmental duplications using high throughput sequencing
inferredcites →https://doi.org/10.1101/gr.213611.116openalex-snapshot
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
inferredcites →https://doi.org/10.1101/gr.214874.116openalex-snapshot
Direct determination of diploid genome sequences
inferredcites →https://doi.org/10.1126/sciadv.aau4921openalex-snapshot
The genetic prehistory of the Andean highlands 7000 years BP though European contact
inferredcites →https://doi.org/10.1126/science.1149504openalex-snapshot
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
inferredcites →https://doi.org/10.1126/science.1224344openalex-snapshot
A High-Coverage Genome Sequence from an Archaic Denisovan Individual
inferredcites →https://doi.org/10.1126/science.296.5566.261bopenalex-snapshot
A Human Genome Diversity Cell Line Panel
inferredcites →https://doi.org/10.1126/science.7716520openalex-snapshot
Killing of Trypanosomes by the Human Haptoglobin-Related Protein
inferredcites →https://doi.org/10.1126/science.aab3761openalex-snapshot
Global diversity, population stratification, and selection of human copy-number variation
inferredcites →https://doi.org/10.1126/science.aao1887openalex-snapshot
A high-coverage Neandertal genome from Vindija Cave in Croatia
inferredcites →https://doi.org/10.1126/science.aax2083openalex-snapshot
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
inferredcites →https://doi.org/10.1126/science.aay5012openalex-snapshot
Insights into human genetic variation and population history from 929 diverse genomes
inferredcites →https://doi.org/10.1159/000184710openalex-snapshot
Sulfotransferase gene copy number variation: pharmacogenetics and function
inferredcites →https://doi.org/10.1172/jci40231openalex-snapshot
CD20 deficiency in humans results in impaired T cell–independent antibody responses
inferredcites →https://doi.org/10.1186/s13059-016-0974-4openalex-snapshot
The Ensembl Variant Effect Predictor
inferredcites →https://doi.org/10.1186/s13059-019-1720-5openalex-snapshot
Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing
inferredcites →https://doi.org/10.1186/s13742-015-0047-8openalex-snapshot
Second-generation PLINK: rising to the challenge of larger and richer datasets
inferredcites →https://doi.org/10.1371/journal.pgen.1000500openalex-snapshot
The Role of Geography in Human Adaptation
inferredcites →https://doi.org/10.1371/journal.pone.0060482openalex-snapshot
Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome
inferredcites →https://doi.org/10.1534/genetics.115.180539openalex-snapshot
An Incomplete Understanding of Human Genetic Variation
inferredcites →https://doi.org/10.3389/fimmu.2017.01245openalex-snapshot
Therapeutic Antibodies: What Have We Learnt from Targeting CD20 and Where Are We Going?
inferredcites →https://doi.org/10.3389/fimmu.2018.02807openalex-snapshot
Modulation of Immune Tolerance via Siglec-Sialic Acid Interactions
inferredcites →https://doi.org/10.3791/50203openalex-snapshot
Chromosome Preparation From Cultured Cells
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UMAP: Uniform Manifold Approximation and Projection for Dimension Reduction
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1038/s41467-021-26856-xopenalex-snapshot
Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation
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