Initial sequencing and analysis of the human genome.
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...The UCSC Genome Browser (14) and ENSEMBL Genome Browser (15,16) both allow genomic regions to be annotated with the results of cutting-edge genomic data, including chromatin state segmentations, ENCODE data, 1000 Genomes variants, evolutionary constraint, LD calculations and NHGRI catalog variants....
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...The reference and alternate alleles for each of the 1000 Genomes pilot SNPs and indels were concatenated with 29 bp of genomic context on each side, using the hg18 sequence obtained from the UCSC Genome Browser (30)....
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...To obtain gene annotations, RefSeq genes (23) were downloaded from the UCSC Genome Browser and GENCODE version 7 (24) was downloaded from the project website....
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