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  1. ...is provided for all 21 resolved MHC class II haplotypes in Supplemental Table S1.The Mamu-DP regionThe human DP region encompasses two tandems of genes, namely, HLA-DPA1 and -DPB1, and -DPA2 and -DPB2 (Klein and Sato 2000). The latter tandem represents a set of pseudogenes that are characterized by several...
  2. ...calls have incomplete ORF (Supplemental Table S7).HLA DR haplotypesThe HLA class II region is highly structured (Klitz et al. 2003; Norman et al. 2017; Chin et al. 2023), which is commonly characterized by DR haplotype. Following earlier work (Houwaart et al. 2023), the HLA DR haplotype is defined...
  3. ...assuming 73% and 27% of sites to be nonsynonymous and synonymous, respectively, calculated as the proportions in the reference pgf haplotype. The MHC classes and important genes, such as classical HLA genes, are marked above. Assembly and analysis of 100 MHC haplotypes Genome Research 1601 www..org almost...
  4. ...et al. 2015), allele-specific effects (Van De Geijn et al. 2015; Degner et al. 2009; Rozowsky et al. 2011; Salavati et al. 2019), ancient DNA (Martiniano et al. 2020; Günther and Nettelblad 2019) or epigenomics (Groza et al. 2020). Pan alignment methods reduce bias by using a pan graph (Siren et al...
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  5. ...to T cells: MHC class I (MHC-I, referred to as MHC-Ia) and MHC class II (MHC-II) (Murphy and Weaver 2016; Pishesha et al. 2022). Class I molecules are ubiquitously expressed and present cytosol-derived antigens to cytotoxic CD8+ T cells. In contrast, class II molecules are primarily expressed...
  6. ...of human diseases. Although the macaque major histocompatibility complex (MHC) region shares most features with the human leukocyte antigen (HLA) region, macaques have an expanded repertoire of MHC class I genes. Although a chimera of two rhesus macaque MHC haplotypes was first published in 2004...
  7. ...prominence across diverse species (Sirén et al. 2021; Liao et al. 2023). By analyzing gene repertoires across populations within a species, pan studies capture the full spectrum of genetic diversity, often emphasizing unique haplotypes and sequence variations (Todesco et al. 2020; Sirén et al. 2021...
  8. ...by other cells. For primate NK cells, the killer-cell immunoglobulin-like receptors (KIR) are a variable and rapidly evolving family of MHC Class I receptors. Studied here is KIR3DL1/S1, which encodes receptors for highly polymorphic human HLA-A and -B and comprises three ancient allelic lineages that have...
  9. ...are subject to systematic bias affecting variant representation. To understand why SV breakpoints are inconsistent across samples, we reanalyzed 64 phased haplotypes constructed from long-read assemblies released by the Human Genome Structural Variation Consortium (HGSVC). We identify 882 SV insertions...
  10. ...identified by a previous allele frequency-based selection scan using aDNA to detect selection in West Eurasia over the past 8000 yr (Fig. 4D; Mathieson et al. 2015). Only LCT and the HLA region show significant evidence of selection in a haplotype-based scan using present-day sequence data that aimed...
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