Klaudia Walter
A5009265821- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- Genetic Mapping and Diversity in Plants and Animals
- Nutrition, Genetics, and Disease
- Bioinformatics and Genomic Networks
- Blood groups and transfusion
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Genetic and phenotypic traits in livestock
- Chromosomal and Genetic Variations
- Metabolism, Diabetes, and Cancer
- Gene expression and cancer classification
- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- Liver Disease Diagnosis and Treatment
- Blood disorders and treatments
- Cancer-related Molecular Pathways
- Genetic and Kidney Cyst Diseases
- Erythrocyte Function and Pathophysiology
- Parasites and Host Interactions
- CRISPR and Genetic Engineering
- Pancreatic function and diabetes
Wellcome Sanger Institute
2016-2025
Authorised Association Consortium
2015
MRC Biostatistics Unit
2005-2007
University of Cambridge
2004-2006
Queen Mary University of London
2005
Science Oxford
2005
Universidad de Salamanca
2005
Pasadena City College
2005
Bethesda University
2005
Seattle University
2005
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 base pair) reads, but the existence reference sequences for human and many other genomes makes it possible to develop new, fast approaches re-sequencing, whereby shorter reads are compared a identify intraspecies variation. Here we report an approach that generates several billion bases accurate nucleotide per...
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set eight structural variant classes comprising both balanced unbalanced variants, which constructed using short-read DNA sequencing data statistically phased onto haplotype blocks 26 populations. Analysing this set, identify gene-intersecting exhibiting population stratification naturally occurring homozygous gene knockouts that suggest...
Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals sequencing human genomes. However, putative loss-of-function genes, which are often some first identified targets genome and exome sequencing, have turned out be errors rather than true genetic variants. In order identify scope within genome, MacArthur et al. (p. 823 ; see Perspective by Quintana-Murci ) extensively validated genomes from 1000 Genomes Project, as well an additional European...
Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank INTERVAL studies, testing 29.5 million genetic for 36 red cell, white platelet properties 173,480 European-ancestry participants. This effort yielded hundreds low frequency (<5%) rare (<1%) strong impact on blood cell phenotypes. Our data highlight general allelic architecture complex...
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high 80×) nearly 10,000 individuals population-based disease collections. In extensively phenotyped cohorts characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel identify alleles associated with levels triglycerides (APOB), adiponectin (ADIPOQ) low-density...
In addition to protein coding sequence, the human genome contains a significant amount of regulatory DNA, identification which is proving somewhat recalcitrant both in silico and functional methods. An approach that has been used with some success comparative sequence analysis, whereby equivalent genomic regions from different organisms are compared order identify similarities differences. general, between highly divergent imply constraint. We have whole-genome comparison humans pufferfish,...
Characterizing the multifaceted contribution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetics medicine. We carried out high-resolution genetic, epigenetic, transcriptomic profiling three immune cell types (CD14+ monocytes, CD16+ neutrophils, naive CD4+ T cells) from up 197 individuals. assess, quantitatively, relative cis-genetic transcription evaluate their impact as potential sources confounding epigenome-wide association studies. Further, we...
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated data set 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down 0.1% minor allele frequency in British population. Here we demonstrate value this resource improving imputation accuracy rare...
Abstract Cellular organelles provide opportunities to relate biological mechanisms disease. Here we use affinity proteomics, genetics and cell biology interrogate cilia: poorly understood organelles, where defects cause genetic diseases. Two hundred seventeen tagged human ciliary proteins create a final landscape of 1,319 proteins, 4,905 interactions 52 complexes. Reverse tagging, repetition purifications statistical analyses, produce high-resolution network that reveals organelle-specific...
Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) deep approach to examine broader allelic architecture 12 anthropometric traits associated with height, body mass, fat distribution in up 267,616 individuals. report 106 significant signals that have not been identified, including 9 variants pointing functional...
Abstract By moving essential body fluids and molecules, motile cilia flagella govern respiratory mucociliary clearance, laterality determination the transport of gametes cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly dynein arm motors into axonemes. Before their import flagella, multi-subunit axonemal arms are thought to be stabilized pre-assembled in cytoplasm through a DNAAF2–DNAAF4–HSP90 complex akin HSP90...
Host genetics is a key determinant of COVID-19 outcomes. Previously, the Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with However, largest impact on outcomes are expected be rare in population. Hence, studying may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome whole-genome sequencing from 21 cohorts across 12 countries performed...
Abstract Myeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction of mature blood cells. Their causative somatic mutations, for example, JAK2 V617F , common in the population, yet only a minority carriers develop MPN. Here we show that inherited polygenic loci underlie hematological traits influence clonal expansion. We identify risk scores (PGSs) monocyte count and plateletcrit as new factors positivity. PGSs several influenced different MPN subtypes, with low...