Runs of homozygosity: windows into population history and trait architecture
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
[HTML][HTML] Investigative genetic genealogy: Current methods, knowledge and practice
Investigative genetic genealogy (IGG) has emerged as a new, rapidly growing field of
forensic science. We describe the process whereby dense SNP data, commonly comprising …
forensic science. We describe the process whereby dense SNP data, commonly comprising …
Fast two-stage phasing of large-scale sequence data
Haplotype phasing is the estimation of haplotypes from genotype data. We present a fast,
accurate, and memory-efficient haplotype phasing method that scales to large-scale SNP …
accurate, and memory-efficient haplotype phasing method that scales to large-scale SNP …
Accurate detection of identity-by-descent segments in human ancient DNA
Long DNA segments shared between two individuals, known as identity-by-descent (IBD),
reveal recent genealogical connections. Here we introduce ancIBD, a method for identifying …
reveal recent genealogical connections. Here we introduce ancIBD, a method for identifying …
Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits
Genome-wide genealogies compactly represent the evolutionary history of a set of genomes
and inferring them from genetic data has the potential to facilitate a wide range of analyses …
and inferring them from genetic data has the potential to facilitate a wide range of analyses …
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
The selective pressures that shape clonal evolution in healthy individuals are largely
unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb …
unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb …
1,135 genomes reveal the global pattern of polymorphism in Arabidopsis thaliana
Arabidopsis thaliana serves as a model organism for the study of fundamental physiological,
cellular, and molecular processes. It has also greatly advanced our understanding of …
cellular, and molecular processes. It has also greatly advanced our understanding of …
Identity inference of genomic data using long-range familial searches
Consumer genomics databases have reached the scale of millions of individuals. Recently,
law enforcement authorities have exploited some of these databases to identify suspects via …
law enforcement authorities have exploited some of these databases to identify suspects via …
BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data
Runs of homozygosity (RoHs) are genomic stretches of a diploid genome that show identical
alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are …
alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are …
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Nature genetics, 2014 - nature.com
Whole-genome sequencing enables complete characterization of genetic variation, but
geographic clustering of rare alleles demands many diverse populations be studied. Here …
geographic clustering of rare alleles demands many diverse populations be studied. Here …