<p>In the Figure, the underlined text indicates the versions of: the Burrows-Wheeler Aligner(BWA), the Broad Institute’s Genome Analysis Toolkit (GATK) Unified Genotyper(UG) and human genome reference(Hg). For Figure credits see the Section Acknowledgments.</p
<p>These graphs compare the number of variants per person at different stages of the literature scre...
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical inte...
Abstract Background Reference genome selection is a prerequisite for successful analysis of next gen...
<p>Numbers of analyzed variants and mean estimates of total haplotypes, including the derived and an...
Variants not present in gnomAD [66] are listed as novel and variants identified by all four genotypi...
The uses of the Genome Reference Consortium’s human reference sequence can be roughly categorized in...
To obtain reliable variant results, the accuracy of sequence alignment, consensus calling and varian...
A. Circles represent the populations that were HLA typed. Colors and size of the circles correspond ...
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
Hehir-Kwa JY, Marschall T, Kloosterman WP, et al. A high-quality human reference panel reveals the c...
<p>SNPs are shown in black/grey, insertions in red, deletions in blue, and complex variants in orang...
A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide associat...
<div><p>The uses of the Genome Reference Consortium’s human reference sequence can be roughly catego...
A: The basecalled reads are mapped against the human reference genome GRCh38 (black). Reads are spli...
<p>The values of −log<sub>10</sub>(p) at the anchor SNPs for the three genome-wide homozygosity asso...
<p>These graphs compare the number of variants per person at different stages of the literature scre...
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical inte...
Abstract Background Reference genome selection is a prerequisite for successful analysis of next gen...
<p>Numbers of analyzed variants and mean estimates of total haplotypes, including the derived and an...
Variants not present in gnomAD [66] are listed as novel and variants identified by all four genotypi...
The uses of the Genome Reference Consortium’s human reference sequence can be roughly categorized in...
To obtain reliable variant results, the accuracy of sequence alignment, consensus calling and varian...
A. Circles represent the populations that were HLA typed. Colors and size of the circles correspond ...
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
Hehir-Kwa JY, Marschall T, Kloosterman WP, et al. A high-quality human reference panel reveals the c...
<p>SNPs are shown in black/grey, insertions in red, deletions in blue, and complex variants in orang...
A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide associat...
<div><p>The uses of the Genome Reference Consortium’s human reference sequence can be roughly catego...
A: The basecalled reads are mapped against the human reference genome GRCh38 (black). Reads are spli...
<p>The values of −log<sub>10</sub>(p) at the anchor SNPs for the three genome-wide homozygosity asso...
<p>These graphs compare the number of variants per person at different stages of the literature scre...
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical inte...
Abstract Background Reference genome selection is a prerequisite for successful analysis of next gen...
DOI
Add to ORKG