Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes
Abstract The human Major Histocompatibility Complex (MHC) or Human Leukocyte Antigen
(HLA) super-locus is a highly polymorphic genomic region that encodes more than 140 …
(HLA) super-locus is a highly polymorphic genomic region that encodes more than 140 …
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: a working group report of the Primary Immunodeficiency Diseases …
Genetic testing has become an integral component of the diagnostic evaluation of patients
with suspected primary immunodeficiency diseases. Results of genetic testing can have a …
with suspected primary immunodeficiency diseases. Results of genetic testing can have a …
Mapping and phasing of structural variation in patient genomes using nanopore sequencing
M Cretu Stancu, MJ Van Roosmalen, I Renkens… - Nature …, 2017 - nature.com
Despite improvements in genomics technology, the detection of structural variants (SVs)
from short-read sequencing still poses challenges, particularly for complex variation. Here …
from short-read sequencing still poses challenges, particularly for complex variation. Here …
Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide
Because transethnic analysis may facilitate prioritization of causal genetic variants, we
performed a genome-wide association study (GWAS) of psoriasis in South Asians (SAS) …
performed a genome-wide association study (GWAS) of psoriasis in South Asians (SAS) …
[HTML][HTML] State-of-the-art genome inference in the human MHC
AT Dilthey - The International Journal of Biochemistry & Cell …, 2021 - Elsevier
Abstract The Major Histocompatibility Complex (MHC) on the short arm of chromosome 6 is
associated with more diseases than any other region of the genome; it encodes the antigen …
associated with more diseases than any other region of the genome; it encodes the antigen …
Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease
The MHC region is highly associated with autoimmune and infectious diseases. Here we
conduct an in-depth interrogation of associations between genetic variation, gene …
conduct an in-depth interrogation of associations between genetic variation, gene …
Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios
ML Matey-Hernandez, S Brunak, JMG Izarzugaza - BMC bioinformatics, 2018 - Springer
Background The adaptive immune response intrinsically depends on hypervariable human
leukocyte antigen (HLA) genes. Concomitantly, correct HLA phenotyping is crucial for …
leukocyte antigen (HLA) genes. Concomitantly, correct HLA phenotyping is crucial for …
JTK: targeted diploid genome assembler
Motivation Diploid assembly, or determining sequences of homologous chromosomes
separately, is essential to elucidate genetic differences between haplotypes. One approach …
separately, is essential to elucidate genetic differences between haplotypes. One approach …
SNP-density crossover maps of polymorphic transposable elements and HLA genes within MHC class I haplotype blocks and junction
The genomic region (~ 4 Mb) of the human major histocompatibility complex (MHC) on
chromosome 6p21 is a prime model for the study and understanding of conserved …
chromosome 6p21 is a prime model for the study and understanding of conserved …