Runs of homozygosity: windows into population history and trait architecture

FC Ceballos, PK Joshi, DW Clark, M Ramsay… - Nature Reviews …, 2018 - nature.com
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 …

[HTML][HTML] Investigative genetic genealogy: Current methods, knowledge and practice

D Kling, C Phillips, D Kennett, A Tillmar - Forensic Science International …, 2021 - Elsevier
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 …

[PDF][PDF] Fast two-stage phasing of large-scale sequence data

BL Browning, X Tian, Y Zhou, SR Browning - The American Journal of …, 2021 - cell.com
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 …

[HTML][HTML] Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits

BC Zhang, A Biddanda, ÁF Gunnarsson, F Cooper… - Nature Genetics, 2023 - nature.com
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 …

[HTML][HTML] Accurate detection of identity-by-descent segments in human ancient DNA

H Ringbauer, Y Huang, A Akbari, S Mallick, I Olalde… - Nature Genetics, 2024 - nature.com
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 …

Identity inference of genomic data using long-range familial searches

Y Erlich, T Shor, I Pe'er, S Carmi - Science, 2018 - science.org
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 …

[PDF][PDF] 1,135 genomes reveal the global pattern of polymorphism in Arabidopsis thaliana

C Alonso-Blanco, J Andrade, C Becker, F Bemm… - Cell, 2016 - cell.com
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 …

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

PR Loh, G Genovese, RE Handsaker, HK Finucane… - Nature, 2018 - nature.com
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 …

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

V Narasimhan, P Danecek, A Scally, Y Xue… - …, 2016 - academic.oup.com
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 …

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 …