… We found that >99% of SNP calls were correct at homozygous reference sites, dropping
to 91.4% at heterozygous and homozygous non-reference sites. Similarly, Nanopore and …

… In total, we found that ∼22% of our signals overlapped at least one other autoimmune …
We report at seven loci the same top variant seen in primary biliary cirrhosis. We also note …

… We selected all SNPs from our callset that were contained at least five times in the NHGRI-EBI …
An insertion of length 129 bp located at position 133,278,856 on chromosome 9, close to …

Complex allelic variation hampers the assembly of haplotype-resolved sequences from diploid
genomes. We developed trio binning, an approach that simplifies haplotype assembly by …

… variation at classical … at class I and class II loci for independent datasets: at call rates of
95–99%, imputation accuracy is between 92% and 98% at the four-digit level and over 97% at the …

The human leukocyte antigen (HLA) haplotype DRB1*15:01 is the major risk factor for
multiple sclerosis (MS). Here, we find that DRB1*15:01 is hypomethylated and predominantly …

… We detect anti-ANO2 antibody reactivity at similar levels in controls as in 3 other inflammatory
diseases. … Outside this work, PK is working at Roche Diagnostics in unrelated projects. …

… Reads carrying with an assignment a in the inference set for which to_level(a, l) = 0 at
level l could also be considered as entirely uncalled at l; we therefore also report the metric …

… Third, we infer the most likely pair of underlying alleles at G group resolution from the
IMGT/HLA database at each locus, employing a simple likelihood framework. We show that HLA*…

… model of HLA*PRG (Dilthey et al., 2016). Briefly, at each locus, we maximize P aligned …
We are grateful to all staff at Histogenetics for their involvement in PacBio and Miseq exon-…