[HTML][HTML] Multi-platform discovery of haplotype-resolved structural variation in human genomes
… We generated a second set of SVs for each trio using the haplotype-resolved Phased-SV
and MS-PAC assemblies generated from the PB long-read sequencing data (Methods: Unified …
and MS-PAC assemblies generated from the PB long-read sequencing data (Methods: Unified …
[HTML][HTML] A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel
C Phillips, J Amigo, AO Tillmar, MA Peck… - Forensic Science …, 2020 - Elsevier
… Microhaplotypes are generally more informative per locus than tri-allelic SNPs as most,
although not all, of them have more than three common haplotypes. The equivalent average …
although not all, of them have more than three common haplotypes. The equivalent average …
[HTML][HTML] Reconstructing recent population history while mapping rare variants using haplotypes
U Yunusbaev, A Valeev, M Yunusbaeva, HW Kwon… - Scientific reports, 2019 - nature.com
… 2 and 7 SNPs overlapping with our rare haplotypes c2592 and c863, respectively (Table 5).
Because of the large number of the asthma-associated SNPs … We used the map files for our …
Because of the large number of the asthma-associated SNPs … We used the map files for our …
[HTML][HTML] Creating artificial human genomes using generative neural networks
… SNPs selected as a subset from [25], 3348 SNPs dispersed over the whole chromosome
15 and a dense 10000 SNP … /haplotypes (instances) and columns are positions/SNPs (features)…
15 and a dense 10000 SNP … /haplotypes (instances) and columns are positions/SNPs (features)…
A fine‐scale genetic map of the Japanese population
J Takayama, S Makino, T Funayama, M Ueki… - Clinical …, 2023 - Wiley Online Library
… , LD-based genetic map for the Japanese population from 10 million SNPs of 150 deeply
sequenced unrelated individuals; genotype QC and haplotype phasing were performed by …
sequenced unrelated individuals; genotype QC and haplotype phasing were performed by …
The complete sequence of a human genome
… from multiple individuals resulted in a mosaic of haplotypes. As a result, several GRC …
a complete human haplotype, it does not capture the full diversity of human genetic variation…
a complete human haplotype, it does not capture the full diversity of human genetic variation…
[HTML][HTML] SNP and haplotype regional heritability mapping (SNHap-RHM): joint mapping of common and rare variation affecting complex traits
… The current study’s primary strength is that we show the ability of SNHap-RHM to incorporate
SNP and haplotype information jointly to map genomic regions that affect complex traits. …
SNP and haplotype information jointly to map genomic regions that affect complex traits. …
A first-generation haplotype map (HapMap-1) of tea (Camellia sinensis LO Kuntz)
… After using GATK hard filter and population genetic parameters, 2.3 million truths set of
SNPs and 1.4 million InDels that were identified in this study, will provide valuable resources to …
SNPs and 1.4 million InDels that were identified in this study, will provide valuable resources to …
[HTML][HTML] Chromosome-scale and haplotype-resolved genome assembly of a tetraploid potato cultivar
… four haplotypes of its autotetraploid genome remained an unsolved challenge. Here, we
report the 3.1 Gb haplotype-… a, SNP density as observed in pairwise comparisons between the …
report the 3.1 Gb haplotype-… a, SNP density as observed in pairwise comparisons between the …
[HTML][HTML] Efficient estimation for large-scale linkage disequilibrium patterns of the human genome
X Huang, TN Zhu, YC Liu, GA Qi, JN Zhang, GB Chen - Elife, 2023 - elifesciences.org
… ), the large-scale LD patterns of the human genome play … of m 2 SNP pairs, given a sample
of n individuals and m SNPs ( n ≪ … haplotype frequencies, with D l 1 l 2 = p l 1 l 2 - p l 1 p l 2 . …
of n individuals and m SNPs ( n ≪ … haplotype frequencies, with D l 1 l 2 = p l 1 l 2 - p l 1 p l 2 . …