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29 results for “1000 Genomes”
Inferring whole-genome histories in large population datasets: inferred tree sequences for 1000 Genomes
<p>Tree sequences inferred for the 1000 Genomes phase 3 autosomes using <a href="https://tsinfer.readthedocs.io/">tsinfer</a> version 0.1.4 and compressed using <a href="https://tszip.readthedocs.io/en/stable/">tszip</a>. Tree sequences can be decompressed as follows:</p> <pre><code class="language-bash">$ tsunzip 1kg_chr1.trees.tsz</code></pre> <p>Once decompressed, trees files can be loaded and processed using <a href="https://tskit.readthedocs.io">tskit</a>. </p> <pre><code class="language-python">import tskit ts = tskit.load("1kg_chr1.trees") # ts is an instance of tskit.TreeSequence print("Chromosome 1 contains {} trees".format(ts.num_trees))</code></pre> <p>Metadata associated with individuals and populations was derived from the original <a href="http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/working/20130606_sample_info/20130606_g1k.ped">source</a> and converted to JSON form. For example, to access individual metadata we can use:</p> <pre><code class="language-python">import tskit import json ts = tskit.load("1kg_chr1.trees") ind = ts.individual(0) metadata_dict = json.loads(ind.metadata)</code></pre> <p>The metadata_dict variable will now contain all the metadata for the individual with ID 0 as a dictionary. Metadata associated with populations can be found in a similar way. Population IDs are associated with individuals via their constituent nodes. For example,</p> <pre><code class="language-python">pop_metadata = [json.loads(pop.metadata) for pop in ts.populations()] ind_node = ts.node(ind.nodes[0]) ind_pop_metadata = pop_metadata[ind_node.population]</code></pre> <p>After this, the ind_pop_metadata variable will contain the population level metadata for individual ID 0.</p> <p>The full data pipeline used to generate these tree sequences and associated metadata is available on <a href="https://github.com/mcveanlab/treeseq-inference/tree/master/human-data">GitHub</a>.</p>
Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project
SV analysis of the long-read sequencing data of 1,019 samples from the 1000 Genomes Project. The data is hosted at the International Genome Sample Resource (IGSR) in the <a href="https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1KG_ONT_VIENNA/">1KG_ONT_VIENNA</a> directory. Please see the <a href="https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1KG_ONT_VIENNA/README_1KG_ONT_VIENNA.md">README</a> and <a href="https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1KG_ONT_VIENNA/README_1KG_ONT_VIENNA_datareuse_statement.md">data reuse statement</a> for further information about this dataset.
1000 Genomes Project Cleaned Dataset
<p>The first four authors performed standard quality control analysis on the 1000 Genomes (1KG) Project genotypes that were generated on the Illumina Omni2.5M chip, at the Broad and Sanger Institutes. The datasets were then posted on the website of The Centre for Applied Genomics at Sick Kids Hospital at https://www.tcag.ca/tools/1000genomes.html. The last two authors then looked for overlap between those datasets and the Hapmap3 datasets that had gene expression for Endoplasmic Reticulum Aminopeptidase 2 (ERAP2), and chose the Yoruban from Ibadan, Nigeria (YRI) and Utah residents with Northern and Western European ancestry (CEU) subpopulations. These two subpopulations had the largest overlap between the 1KG and HapMap3 datasets, with 91 YRI and 104 CEU samples. The text files provided in this repository contain the IDs of all invidividuals and phenotypes for the labelled populations e.g. ERAP2_CEU_YRI_phenotypes.txt has phenotypes for both populations. The two *_pc_outliers.txt contain the IDs of the individuals excluded from analysis due to extraneous principal components. In summary, 88 YRI and 102 CEU individuals were included in the analysis. </p>
Relate-estimated coalescence rates, allele ages, and selection p-values for the 1000 Genomes Project
<p><strong>Overview</strong></p> <p>Coalescence rates, allele ages, and p-values for evidence of positive selection calculated for 2478 samples of the 1000 Genomes Project using Relate.</p> <p>We estimated the joint genealogy of all 1000 GP populations and then extracted the embedded genealogy for each population.<br> For the genealogy of each population, we jointly estimated the population size history and branch lengths. <br> Variants segregating in more than one population therefore have correlated but different allele ages in each population.</p> <p>Please refer to <a href="https://www.nature.com/articles/s41588-019-0484-x">Speidel et al. Nature Genetics (2019)</a> for more details or email leo.speidel@outlook.com for any queries.</p> <p><strong>Coalescence rates</strong></p> <p>The zipped directory coalescence_rates.zip contains coalescence rates for 26 populations in the 1000 Genomes Project data set.</p> <ul> <li>The .coal files show the haploid coalescence rates, please refer to the <a href="https://myersgroup.github.io/relate/modules.html#PopulationSizeScript_FileFormats">Relate documentation</a> for the file format.</li> <li>The popsize.RData file is an R data frame storing the diploid population sizes (0.5/coalescence rate) calculated using the .coal files. The columns of this data frame, named "pop_size", are <ul> <li>gens_ago: Time in generations at which epoch starts. (To get years from generations, we multiply by 28.)</li> <li>population_size: Diploid population size in this epoch.</li> <li>population: Name of population </li> <li>region: Name of region (AFR, AMR, EAS, EUR, SAS)</li> </ul> </li> </ul> <p><strong>Allele ages and selection p-values</strong></p> <p>The zipped directories allele_ages_*.zip contain R data frames for each 1000GP population storing allele ages and selection p-values.<br> Please note that only mutations that segregate in the population and map to a unique branch in the Relate-estimated marginal trees are included. Selection p-values are only provided for mutations of DAF > 2 that pass quality filters (see Speidel et al., 2019). </p> <p>To get an age estimate for a neutral mutation, use 0.5*(lower_age + upper_age). To get years from generations, we multiply by 28.</p> <p>The columns of these data frames, named "allele_ages", are</p> <ul> <li>CHR: chromosome index</li> <li>BP: base-pair position (GRCh37)</li> <li>ID: id of SNP</li> <li>lower_age: Age in generations of coalescence event at the lower end of the branch onto which the mutation maps</li> <li>upper_age: Age in generations of coalescence event at the upper end of the branch onto which the mutation maps</li> <li>ancestral/derived: Ancestral/derived allele</li> <li>upstream: Upstream (5') allele</li> <li>downstream: Downstream (3') allele</li> <li>DAF: Derived-allele frequency</li> <li>pvalue: log10 p-value for selection evidence</li> </ul>
LD matrices for 1000 genomes phase 1 files for EUR and YRI
<p>Pairwise LD values >=0.8 are stored for SNPs from the Phase1 1000 Genomes panel</p> <p>Format:<br> chr_snp1<br> start_snp1<br> end_snp1<br> rsid_snp1<br> chr_snp2<br> start_snp2<br> end_snp2<br> rsid_snp2<br> r^2<br> (D' provided in some files)</p> <p>EUR_hap.txt<br> from Pouya Kheradpour (Kellis Lab)<br> phase1 of 1000 genomes<br> computed by phased haplotype (preferable)<br> hg19</p> <p>EUR_geno.txt<br> from Alicia Martin (Bustamante Lab)<br> phase 1 of 1000 genomes<br> computed by genotype<br> hg19</p> <p>YRI_geno.txt<br> YRI LD from Alicia Martin (Bustamante Lab)<br> phase 1 of 1000 genomes<br> computed by genotype<br> hg19<br> </p>
A unified genealogy of modern and ancient genomes: Unified, inferred tree sequences of 1000 Genomes, Human Genome Diversity, and Simons Genome Diversity Projects
<p>Unified, inferred tree sequences built from the 1000 Genomes phase 3, Human Genome Diversity, and Simons Genome Diversity Projects. Each tree sequence is the arm of an autosome (the short arm of acrocentric chromosomes are not included). Tree sequences were inferred using <a href="https://tsinfer.readthedocs.io/">tsinfer</a> version 0.2.1, dated using <a href="https://tsdate.readthedocs.io/en/latest/">tsdate</a> version 0.1.4 and compressed using <a href="https://tszip.readthedocs.io/en/stable/">tszip</a>. All data is in GRCh38.</p> <p>The full data pipeline used to generate these tree sequences and associated metadata is available on <a href="https://github.com/awohns/unified_genealogy_paper">GitHub</a>. A description can be found in the Supplementary Material of <a href="https://www.biorxiv.org/content/10.1101/2021.02.16.431497v2">Wohns et al. (2021)</a>.</p> <p>Tree sequences can be decompressed as follows:</p> <pre><code>$ tsunzip hgdp_tgp_sgdp_chr1_p.dated.trees.tsz</code></pre> <p>Once decompressed, trees files can be loaded and processed in Python using <a href="https://tskit.readthedocs.io/">tskit</a>. </p> <pre><code>import tskit ts = tskit.load("hgdp_tgp_sgdp_chr1_p.dated.trees") # ts is an instance of tskit.TreeSequence print("The short arm of chromosome 1 contains {} trees".format(ts.num_trees))</code></pre> <p>Metadata associated with nodes contain the mean and variance of tsdate's posterior distribution on node time. To access these values, we can use:</p> <pre><code>import json node = ts.node(10000) metadata_dict = json.loads(node.metadata) print("The mean of the posterior distribution on the age of node 10000 is {} generations".format(metadata_dict["mn"])) print("The variance of the posterior distribution on the age of node 10000 is {} generations".format(metadata_dict["vr"]))</code></pre> <p>Age estimates for each variant site can be derived from the mean of the age estimates of the upper and lower bounding nodes of the oldest mutation associated with a site. tsdate includes <a href="https://tsdate.readthedocs.io/en/latest/python-api.html?highlight=sites_time_from_ts#tsdate.sites_time_from_ts">a function to find the age estimates of all sites in the tree sequence</a>:</p> <pre><code>import tsdate site_times = tsdate.sites_time_from_ts(ts, node_selection='arithmetic')</code></pre> <p>This returns a numpy array which has a length equal to the number of sites.</p> <p>Accessing variant sites in the tree sequence provides the position and id of variants:</p> <pre><code>site = ts.site(1000) site_metadata = json.loads(site.metadata) print("The position of site 1000 is {} and its ID is {}.".format(site.position, site_metadata["ID"]))</code></pre> <p>Metadata associated with individuals and populations was derived from the original sources (<a href="http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/working/20130606_sample_info/20130606_g1k.ped">TGP</a>, <a>HGDP</a>, and <a href="https://sharehost.hms.harvard.edu/genetics/reich_lab/sgdp/SGDP_metadata.279public.21signedLetter.samples.txt">SGDP</a>) and converted to JSON form. For example, to access individual metadata we can use:</p> <pre><code>ind = ts.individual(0) metadata_dict = json.loads(ind.metadata)</code></pre> <p>The metadata_dict variable will now contain all the metadata for the individual with ID 0 as a dictionary. Metadata associated with populations can be found in a similar way. Population IDs are associated with individuals via their constituent nodes. For example,</p> <pre><code>pop_metadata = [json.loads(pop.metadata) for pop in ts.populations()] ind_node = ts.node(ind.nodes[0]) ind_pop_metadata = pop_metadata[ind_node.population]</code></pre> <p>After this, the ind_pop_metadata variable will contain the population level metadata for individual ID 0.</p>
1000 Genomes Project Transposable Element database
<p>Multi-sample VCF with transposable elements across individuals in the 1KGP dataset. Transposable elements were called using RetroSeq </p>
Protein haplotype sequences obtained by ProHap from the 1000 Genomes Project data set
<p>Database of protein sequences obtained using ProHap (<a href="https://github.com/ProGenNo/ProHap">https://github.com/ProGenNo/ProHap</a>) on the data set of phased genotypes published by the 1000 Genomes Project, aligned with the GRCh38 genome build (<a href="https://www.internationalgenome.org/data-portal/data-collection/grch38">https://www.internationalgenome.org/data-portal/data-collection/grch38</a>). We used Ensembl v.110 for the mapping of coordinates between genes, exons, and transcripts. The complete configuration file for each ProHap run is attached to this repository.</p> <p>This data set contains six compressed directories, five representing the superpopulations included in the 1000 Genomes Project (<a href="https://catalog.coriell.org/1/NHGRI/Collections/1000-Genomes-Project-Collection/1000-Genomes-Project">https://catalog.coriell.org/1/NHGRI/Collections/1000-Genomes-Project-Collection/1000-Genomes-Project</a>), and one created using all the samples included in the 1000 Genomes data set:</p> <ul> <li>AFR - African</li> <li>AMR - American</li> <li>EUR - European</li> <li>SAS - South Asian</li> <li>EAS - East Asian</li> <li>ALL - all participants in the 1000 Genomes Project</li> </ul> <p>Each of the directories contains the following files:</p> <ul> <li>F1: The concatenated fasta file ready to be used with search engines, contains the following: <ul> <li>Protein haplotype sequences obtained by ProHap, using alleles with at least 1 % frequency within the selected population</li> <li>Reference proteome as per Ensembl v. 110</li> <li>Contaminant sequences from the cRAP project (<a href="https://www.thegpm.org/crap/">https://www.thegpm.org/crap/</a>)</li> <li>The file is provided in two formats - full and simplified. The simplified fasta contains only the artificial protein identifier and the matching gene name, and is optimised for compatibility with a wide range of tools. For annotation of peptides using the PeptideAnnotator, please provide the header (F1.2) in addition to the simplified fasta file. </li> </ul> </li> <li>F2: Additional information about the haplotype sequences, to be used for mapping identified peptides to the original haplotypes</li> <li>F3: Translations of haplotype cDNA sequences, before merging with the reference proteome</li> </ul> <p>For further description of the files, please refer to <a href="https://github.com/ProGenNo/ProHap/wiki/Output-files">https://github.com/ProGenNo/ProHap/wiki/Output-files</a>.</p> <p>For the usage of these databases with search engines, and downstream anaylsis of identified peptides, please refer to the project's wiki page: <a href="https://github.com/ProGenNo/ProHap/wiki/Using-the-database-for-proteomic-searches">https://github.com/ProGenNo/ProHap/wiki/Using-the-database-for-proteomic-searches</a>.</p> <p>When using these databases in your publication, please cite: Vašíček, J., Kuznetsova, K.G., Skiadopoulou, D. <em>et al.</em> ProHap enables human proteomic database generation accounting for population diversity. <em>Nat Methods</em> (2024). <a href="https://doi.org/10.1038/s41592-024-02506-0">https://doi.org/10.1038/s41592-024-02506-0</a></p>
Рис. 1. ФиΛогенетические Αеревья хантавируса AMRV и его прироΑного носитеΛя восточноазиатской мыши Apodemus peninsulae Thomas, 1906. А. ФиΛогенетическое Αерево восточноазиатской мыши Apodemus peninsulae, построенное метоΑом «максимаΛьного правΑопоΑобия» (ML) и поΛученное на основе анаΛиза участка гена цитохрома b мтΔНК (744 п.н.). В узΛах ветвΛения указаны бутстреп-поΑΑержки, рассчитанные ΑΛя 1000 повторов. Цветными Λиниями обозначены фиΛогенетические Λинии: Αве Китайские (зеΛеный), Корейская «Korea» (синий), Амурская «Amur» (красный). ПоΛужирным шрифтом выΑеΛены собственные образцы. Названия образцов из GenBank/NCBI быΛи сокращены; B. ФиΛогенетическое Αерево из работы Α. Н. Яшиной с ΑопоΛнениями, построенное метоΑом «бΛижайшего сосеΑа» (NJ) на основе посΛеΑоватеΛьностей фрагмента М-сегмента (2737–2980 н.п.) генома хантавирусов. В узΛах ветвΛения указаны бутстреппоΑΑержки, рассчитанные ΑΛя 1000 повторов. Жирным выΑеΛены иссΛеΑованные РНК изоΛяты (Яшина 2012; Яшина и Αр. 2019) Fig. 1. Phylogenetic trees of AMRV and its natural reservoir host — the Korean field mouse Apodemus peninsulae Thomas, 1906. A. Phylogenetic tree of the Korean field mouse Apodemus peninsulae constructed by the "maximum likelihood" method (ML). The data are obtained from the analysis of the cytochrome b mtDNA gene fragments (744 bp). Bootstrap supports calculated for 1,000 repeats are indicated in the branching nodes. Colored lines indicate phylogenetic lines: two Chinese (green), Korea (blue), and Amur (red). Own samples are highlighted in bold. The names of the samples from GenBank/NCBI have been shortened; B. Phylogenetic tree from L. N. Yashina's work with additions constructed by the neighbour joining method (NJ). It is based on the sequences of an M-segment fragment (2737–2980 bp) of the hantavirus genome. Bootstrap supports calculated for 1,000 repeats are indicated in the branching nodes. The researched RNA isolates are highlighted in bold (Yashina 2012; Yashina et al. 2019) in Variability of the gene cyt b in the Korean field mouse Apodemus peninsulae Thomas, 1906 - a reservoir host of AMRV in the Khasansky District of Primorsky Krai
Рис. 1. ФиΛогенетические Αеревья хантавируса AMRV и его прироΑного носитеΛя восточноазиатской мыши Apodemus peninsulae Thomas, 1906. А. ФиΛогенетическое Αерево восточноазиатской мыши Apodemus peninsulae, построенное метоΑом «максимаΛьного правΑопоΑобия» (ML) и поΛученное на основе анаΛиза участка гена цитохрома b мтΔНК (744 п.н.). В узΛах ветвΛения указаны бутстреп-поΑΑержки, рассчитанные ΑΛя 1000 повторов. Цветными Λиниями обозначены фиΛогенетические Λинии: Αве Китайские (зеΛеный), Корейская «Korea» (синий), Амурская «Amur» (красный). ПоΛужирным шрифтом выΑеΛены собственные образцы. Названия образцов из GenBank/NCBI быΛи сокращены; B. ФиΛогенетическое Αерево из работы Α. Н. Яшиной с ΑопоΛнениями, построенное метоΑом «бΛижайшего сосеΑа» (NJ) на основе посΛеΑоватеΛьностей фрагмента М-сегмента (2737–2980 н.п.) генома хантавирусов. В узΛах ветвΛения указаны бутстреппоΑΑержки, рассчитанные ΑΛя 1000 повторов. Жирным выΑеΛены иссΛеΑованные РНК изоΛяты (Яшина 2012; Яшина и Αр. 2019) Fig. 1. Phylogenetic trees of AMRV and its natural reservoir host — the Korean field mouse Apodemus peninsulae Thomas, 1906. A. Phylogenetic tree of the Korean field mouse Apodemus peninsulae constructed by the "maximum likelihood" method (ML). The data are obtained from the analysis of the cytochrome b mtDNA gene fragments (744 bp). Bootstrap supports calculated for 1,000 repeats are indicated in the branching nodes. Colored lines indicate phylogenetic lines: two Chinese (green), Korea (blue), and Amur (red). Own samples are highlighted in bold. The names of the samples from GenBank/NCBI have been shortened; B. Phylogenetic tree from L. N. Yashina's work with additions constructed by the neighbour joining method (NJ). It is based on the sequences of an M-segment fragment (2737–2980 bp) of the hantavirus genome. Bootstrap supports calculated for 1,000 repeats are indicated in the branching nodes. The researched RNA isolates are highlighted in bold (Yashina 2012; Yashina et al. 2019)
1000 Genomes Project
<p>The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. The genomes of 2,504 individuals from 26 populations were reconstructed using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. A broad spectrum of genetic variation was characterised, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries.</p>
A unified genealogy of modern and ancient genomes: Unified, inferred tree sequences of 1000 Genomes, Human Genome Diversity, and Simons Genome Diversity Projects with ancient samples
<p>Unified, inferred tree sequences built from the 1000 Genomes phase 3, Human Genome Diversity, and Simons Genome Diversity Projects with high coverage sequenced ancient samples. The ancient samples are the Altai, Chagyrskaya, and Vindija Neanderthals, the Denisovan, and a high-coverage family of four from the Afanasievo Culture.</p> <p>Each tree sequence is the arm of an autosome (the short arm of acrocentric chromosomes are not included). Tree sequences were inferred with <a href="https://tsinfer.readthedocs.io/">tsinfer</a> version 0.2.1 and <a href="https://tsdate.readthedocs.io/en/latest/">tsdate</a> version 0.1.4, as described in <a href="http://www.biorxiv.org/content/10.1101/2021.02.16.431497v2">Wohns et al. (2021)</a>. The files were compressed using <a href="https://tszip.readthedocs.io/en/stable/">tszip</a>. All data is in GRCh38.</p> <p>The full data pipeline used to generate these tree sequences and associated metadata is available on <a href="https://github.com/awohns/unified_genealogy_paper">GitHub</a>. A description can be found in the Supplementary Material of <a href="https://www.biorxiv.org/content/10.1101/2021.02.16.431497v2">Wohns et al. (2021)</a>.</p> <p>Tree sequences can be decompressed as follows:</p> <pre><code>$ tsunzip hgdp_tgp_sgdp_high_cov_ancients_chr1_p.dated.trees.tsz</code></pre> <p>Once decompressed, trees files can be loaded and processed in Python using <a href="https://tskit.readthedocs.io/">tskit</a>. </p> <pre><code>import tskit ts = tskit.load("hgdp_tgp_sgdp_high_cov_ancients_chr1_p.dated.trees") # ts is an instance of tskit.TreeSequence print("The short arm of chromosome 1 contains {} trees".format(ts.num_trees))</code></pre> <p>Accessing variant sites in the tree sequence provides the position and id of variants:</p> <pre><code>import json site = ts.site(1000) site_metadata = json.loads(site.metadata) print("The position of site 1000 is {} and its ID is {}.".format(site.position, site_metadata["ID"]))</code></pre> <p>Metadata associated with individuals and populations was derived from the original sources (<a href="http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/working/20130606_sample_info/20130606_g1k.ped">TGP</a>, <a>HGDP</a>, and <a href="https://sharehost.hms.harvard.edu/genetics/reich_lab/sgdp/SGDP_metadata.279public.21signedLetter.samples.txt">SGDP</a>) and converted to JSON form. For example, to access individual metadata we can use:</p> <pre><code>ind = ts.individual(0) metadata_dict = json.loads(ind.metadata)</code></pre> <p>The metadata_dict variable will now contain all the metadata for the individual with ID 0 as a dictionary. Metadata associated with populations can be found in a similar way. Population IDs are associated with individuals via their constituent nodes. For example,</p> <pre><code>pop_metadata = [json.loads(pop.metadata) for pop in ts.populations()] ind_node = ts.node(ind.nodes[0]) ind_pop_metadata = pop_metadata[ind_node.population]</code></pre> <p>After this, the ind_pop_metadata variable will contain the population level metadata for individual ID 0.</p>
SINGER-inferred targets for exceptional population differentiation in coalescence times in African populations in 1000 Genomes Project
<p>This repo saves the gene targets which shows the signal of population differentiation in coalescence times in African populations in 1000 Genomes Project. </p> <p>Here are the detailed explanations for the header of the files:</p> <p>chrom The chromosome where the genomic window is located (e.g., chr1, chrX).<br>window_start The 0-based start position of the genomic window being analyzed.<br>window_end The 1-based end position of the genomic window (exclusive).<br>score Ratio between the overall diversity and the population specific diversity, in the genomic window.<br>transcript_chrom The chromosome where the transcript is located.<br>transcript_start The 0-based start position of the transcript.<br>transcript_end The 1-based end position of the transcript (exclusive).<br>transcript_id The unique identifier for the transcript (e.g., Ensembl or RefSeq ID).<br>strand The strand of the transcript: "+" for forward, "-" for reverse.<br>coding_start The start position of the coding region of the transcript (if applicable).<br>coding_end The end position of the coding region of the transcript (if applicable).<br>RGB The RGB color used for visualization in genome browsers (format: R,G,B).<br>block_count The number of exons in the transcript.<br>block_sizes Comma-separated list of exon lengths (in base pairs).<br>block_starts Comma-separated list of exon start positions relative to transcript_start.</p>
Fine-scale subpopulation detection via SNP-based unsupervised method: A case study on the 1000 Genomes Project Resources
<p>Here are the supplementary files to the paper "Fine-scale subpopulation detection via SNP-based unsupervised method:<br> A case study on the 1000 Genomes Project Resources".<br> <br> The repository is organized as:</p> <ol> <li><strong>Supplementary information</strong>: the additional detailed information for the experiments in the paper <ul> <li>Supplementary_information_IPCAPS_Chaichoompu_v1.pdf</li> </ul> </li> <li><strong>Real-life dataset</strong>: the 1000 genome dataset, which is referred to in the paper and is filtered with the parameters explained in the paper. Reference: https://www.internationalgenome.org/ <ul> <li>1000genomes_with_filtering.zip</li> </ul> </li> </ol>
1000 Genomes Autosomal Allele Frequency Differences Across Ancestries (build 38)
<p>This dataset contains chromosome-specific allele frequency differences across different genetic ancestry groups for 73,159,508 autosomal SNPs captured in 2,548 individuals from the 1000 Genomes Project (build 38), available <a href="http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000_genomes_project/release/20190312_biallelic_SNV_and_INDEL/">here</a>. </p> <p> </p>
EGP Mitochondrial Genome Analysis on 1000 Genomes Project 2504 Whole-Genome Sequencing Data
<p><strong>Summary: </strong>This dataset consists of running EGP version 1.3 on whole-genome sequencing data from the 1000 Genomes Project 2504 Dataset. The link to EGP is here https://github.com/tycheleturner/ElGenomaPequeno.</p> <p><strong>Author: </strong>Tychele N. Turner, Ph.D.</p> <p><strong>Short Writeup: EGP version 1.3 on 1000 Genomes Project 2504 Dataset</strong>: Short-read WGS CRAM files were downloaded through the paths present in this file <code>https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000G_2504_high_coverage/1000G_2504_high_coverage.sequence.index</code>. Please note that the index files are there as well. You just have to append a <code>.crai</code>. The results are shown below:</p> <div> <table> <tbody> <tr> <td>Public Dataset</td> <td>EGP Result File Type</td> <td>MD5</td> </tr> <tr> <td>1000 Genomes Project 2504</td> <td>Mitochondrial Genome Fasta Files for MEGA</td> <td>dbf39d6ff0e4389b900f9d985f2e6c64</td> </tr> <tr> <td>1000 Genomes Project 2504</td> <td>Mitochondrial Genome MitoMaster Result File</td> <td>4d53ef60ec16f3e4b566c45fdf0fb977</td> </tr> <tr> <td>1000 Genomes Project 2504</td> <td>Mitochondrial Genome Variant Tables</td> <td>16925b546051d37cce27df8ec57ccc5e</td> </tr> <tr> <td>1000 Genomes Project 2504</td> <td>Mitochondrial Genome Copy Number</td> <td>365c1b360ea327795d981356064658a6</td> </tr> </tbody> </table> <p>Please note: I have found that with Zenodo you must use "Download All" for the copy number table to properly open.</p> </div>
EGP Mitochondrial Genome Analysis on 1000 Genomes Project 698 Related Whole-Genome Sequencing Data
<div> <p><strong>Summary: </strong>This dataset consists of running EGP version 1.3 on whole-genome sequencing data from the 1000 Genomes Project 698 Related Dataset. The link to EGP is here https://github.com/tycheleturner/ElGenomaPequeno.</p> <p><strong>Author: </strong>Tychele N. Turner, Ph.D.</p> <p><strong>Short Writeup: EGP version 1.3 on 1000 Genomes Project 698 Related Dataset</strong>: Short-read WGS CRAM files were downloaded through the paths present in this file <code>https://ftp-trace.ncbi.nlm.nih.gov/1000genomes/ftp/1000G_2504_high_coverage/additional_698_related/1000G_698_related_high_coverage.sequence.index</code>. The results are shown below:</p> <div> <table> <tbody> <tr> <td>Public Dataset</td> <td>EGP Result File Type</td> <td>MD5</td> </tr> <tr> <td>1000 Genomes Project 698 Related</td> <td>Mitochondrial Genome Fasta Files for MEGA</td> <td>322038d61b4da2e937b32410613c3532</td> </tr> <tr> <td>1000 Genomes Project 698 Related</td> <td>Mitochondrial Genome MitoMaster Result File</td> <td>36c782c12245100478903f7fa191a402</td> </tr> <tr> <td>1000 Genomes Project 698 Related</td> <td>Mitochondrial Genome Variant Tables</td> <td>68b2a51361ffae4e7ad9d420b8becd38</td> </tr> <tr> <td>1000 Genomes Project 698 Related</td> <td>Mitochondrial Genome Copy Number</td> <td>1e83c8ae132b0a7ef33b090757b29063</td> </tr> </tbody> </table> <p>Please note: I have found that with Zenodo you must use "Download All" for the copy number table to properly open.</p> </div> <p> </p> </div> <h2> </h2>
GWAS dataset with simulated binary phenotypes for 1000 Genome Project
<p>Phenotypes in this dataset are generated by simulating quantitative blood lipid level phenotype using the method introduced in by (https://app.terra.bio/#workspaces/amp-t2d-op/2019_ASHG_Reproducible_GWAS-V2), and binarized to be suitable as a test case for GWAS methods.</p> <p>ALL.shapeit2_integrated_v1a.GRCh38.20181129.phased.rsid files and allpopid.txt are the 1000 Genome Project reference data used for generating MDS plot in https://github.com/csbio/BridGE-Python</p> <p> </p>
Geographic allele frequency variation in the 1000 Genomes hg38 NYGC dataset
<p>A key challenge in human genetics is to describe and understand the distribution of human genetic variation. Often genetic variation is described by showing rela tionships among populations or individuals, in each case drawing inferences over a large number of variants. Here, we present an alternative representation of human genetic variation that reveals the relative abundance of different allele frequency patterns across populations. This approach allows viewers to easily see several features of human genetic structure: (1) most variants are rare and geographically localized, (2) variants that are common in a single geographic region are more likely to be shared across the globe than to be private to that region, and (3) where two individuals differ, it is most often due to variants that are common globally, regardless of whether the individuals are from the same region or different regions. To guide interpretation of the results, we also apply the visualization to contrasting theoretical scenarios with varying levels of divergence and gene flow. Our variant-centric visualization clarifies the major geographic patterns of human variation and can be used to help correct potential misconceptions about the extent and nature of genetic differentiation among populations.</p>
Data from: Detecting genomic signatures of natural selection with principal component analysis: application to the 1000 Genomes data
To characterize natural selection, various analytical methods for detecting candidate genomic regions have been developed. We propose to perform genome-wide scans of natural selection using principal component analysis (PCA). We show that the common FST index of genetic differentiation between populations can be viewed as the proportion of variance explained by the principal components. Considering the correlations between genetic variants and each principal component provides a conceptual framework to detect genetic variants involved in local adaptation without any prior definition of populations. To validate the PCA-based approach, we consider the 1000 Genomes data (phase 1) considering 850 individuals coming from Africa, Asia, and Europe. The number of genetic variants is of the order of 36 millions obtained with a low-coverage sequencing depth (3×). The correlations between genetic variation and each principal component provide well-known targets for positive selection (EDAR, SLC24A5, SLC45A2, DARC), and also new candidate genes (APPBPP2, TP1A1, RTTN, KCNMA, MYO5C) and noncoding RNAs. In addition to identifying genes involved in biological adaptation, we identify two biological pathways involved in polygenic adaptation that are related to the innate immune system (beta defensins) and to lipid metabolism (fatty acid omega oxidation). An additional analysis of European data shows that a genome scan based on PCA retrieves classical examples of local adaptation even when there are no well-defined populations. PCA-based statistics, implemented in the PCAdapt R package and the PCAdapt fast open-source software, retrieve well-known signals of human adaptation, which is encouraging for future whole-genome sequencing project, especially when defining populations is difficult.
1000 Genomes and S-LDSC reference files for CT-FM (Kim et al., 2024, in prep)
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