1000 genomes project paper

4c, the differences in the error rates between individuals decrease with increasing minor allele frequency. For rare SNPs with MAF (0.2–1%), the switch error is ∼ 5–10%. In this work, we use phased haplotypes generated using the 10X Genomics method which uses linked-read sequencing [13]. In these positions, we make the same observation as we did for the original genotyping in the 1000 genomes reference data (Fig. 1a). The genotype output by imputation was converted to VCF format using bcftools. The majority of SNPs, which fall in the MAF > 5% category, have an error < 2.5%. Multiple methods have been developed for genotype imputation [18]. Nat Rev Genet. Hence r2 values have been computed for all SNPs in each allele frequency window. Library prep was performed according to the manufacturer’s instructions described in the Chromium Genome User Guide Rev. 1a) with the numbers of all 1000GP SNPs (Fig. After dissolution of the Genome Gel Bead in the GEM Illumina Read 1 sequencing primer, 16 bp 10x barcode and 6 bp random primer are released. These sequences were used for calling genotypes and generating the variant calls. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. An alternative measure of imputation accuracy is genotype r2. Manage cookies/Do not sell my data we use in the preference centre. The first major phase of the project was completed in 2016, with publication of a … As a result, lengths of the phase blocks as well as the N50 values for the phase blocks differ by a factor of 10 between the two sets of samples. This is plotted against alternate allele frequency (instead of minor allele frequency) to enable comparison with the previous accuracy estimates in the 1000GP phase 3 paper [3]. Haplotype phasing : existing methods and new developments. El proyecto con un coste de 50 millones de dólares se ha desarrollado en 3 fases, la primera de un año de duración es en realidad un estudio previo preparatorio, mientras que en la segunda fase, con una duración de 2 años, se ha analizado la secuencia genética de un conjunto de 1000 individuos previamente seleccionados que se ha ampliado a 2500 en la tercera fase. Altshuler DL, et al. 2012;9:179–81. variants already phased in the 1000 Genomes VCFs [8]), filtered for PASS, and indels were removed. Nat Genet. One nanogram of high molecular weight genomic DNA is distributed across 100,000 droplets. https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1000529, https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1000477, https://www.nature.com/articles/s41467-018-05513-w, http://creativecommons.org/licenses/by/4.0/, http://creativecommons.org/publicdomain/zero/1.0/, https://doi.org/10.1186/s12864-019-5957-x. Switch error is defined as percentage of possible switches in haplotype orientation used to recover the correct phase in an individual [29] or equivalently, proportion of heterozygous positions whose phase is wrongly inferred relative to the previous heterozygous position [30].

3, 4, 10), the minor allele frequencies are binned into only five bins, i.e. An integrated map of genetic variation from 1,092 human genomes. 3), we observe that the switch error ranges between 20 and 30% for the rare MAF (< 0.1%) SNPs, falling to < 5% for SNPs with MAFs 1–5%.

For the very rare SNPs, i.e. Cite this article.

However, the SNPs in the experimental VCFs only include positions for which there is a non-homozygous reference genotype for that particular individual. 2016;48:811–6. The 1000 Genomes Project is a collaboration among research groups in the US, UK, and China and Germany to produce an extensive catalog of human genetic variation that will support future medical research studies.

Nat Publ Gr. SNPs) as a function of continent-specific minor allele frequency averaged over all chromosomes over all individuals in each continent b in experimental VCF positions comparing SNPs with homozygous alternate vs heterozygous calls in the experimental data c false positive vs false negative rates (defined in text) for all 1000 Genomes SNPs. BMC Genomics ~ 99% of the SNPs are phased in all the samples.

(XLSX 21 kb). 2016;48:1443–8. Loh PR, Palamara PF, Price AL.

The 1000 Genomes Project data have been widely used as a reference for estimating continent-specific allele frequencies, and as a reference panel for phasing and imputation studies. Nat Commun.

Commonly used computational phasing methods are: BEAGLE [6], SHAPEIT [7, 8], EAGLE [9, 10] and IMPUTE v2 [11]. A global reference for human genetic variation. Tewhey R, Bansal V, Torkamani A, Topol EJ, Schork NJ. The experimental genotypes for all SNPs not present in the experimental VCF for each individual are assumed to be homozygous reference. 2009;10:387–406. Figure 9 shows the r2 as function of the alternate allele frequency (AAF) (as opposed to minor allele frequencies). It will extend the data from the International HapMap Project, which created a resource that has been used to find more than 100 regions of the genome that are associated with common human diseases such as coronary artery disease and diabetes.


This tagged DNA is released from the droplets and undergoes library preparation. 10b). This correlates with a lower total number of population invariant SNPs in those continents (Fig. For all the sequences, < 1% of each sequence has zero coverage.

We also analyzed phasing error as a function of the distances between SNPs (Fig. Nature. The SNPs from the experimentally phased VCFs (Fig. Further, it appears that using a population specific reference panel does not improve the accuracy of imputation over using the entire 1000 Genomes data set as a reference panel. Figure S2. 2010;467:1061–73. After filtering for biallelic SNPs, phased, filtered for PASS, removing indels, we are left with 6.78 M (chr2) to 1.05 M (chr22) variants. For the analysis where all 1000 Genomes minor allele frequencies are used (phasing error and imputation error comparing use of multiple reference panels; Figs. c Switch error as a function of Minor Allele Frequencies for all individuals colored by continent. Nat Biotechnol. McCarthy S, et al. However, it is important to note that a lot of the low MAF SNPs have low INFO scores for imputation (Additional file 1: Figure S1b). This data is available for each chromosome separately.

Fast and accurate long-range phasing in a UK biobank cohort. The barcoded libraries were then quantified by qPCR (KAPA Biosystems Library Quantification Kit for Illumina platforms). We observe that phasing and imputation for rare variants are unreliable, which likely reflects the limited sample size of the 1000 Genomes project data. Google Scholar. 2017;27:757–67. 1b), while the number of low MAF SNPs is 1–2 orders of magnitude less than the number of SNPs with MAF > 5% in the experimental data, the number of very low MAF SNPs is 2–10 times greater than the number of SNPs with MAF > 5% in the whole 1000 Genomes data. b Imputation error in the experimental SNPs as a function of Minor Allele Frequencies for all individuals colored by continent. Imputation accuracy all 1000GP SNPs r2 for allele frequency bins. 2002;296:2225–9. Experimental genotypes from the experimental VCFs were obtained for each individual of interest using vcftools.

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