Understanding the role of rare variants is important in elucidating the genetic basis of human
disease. Negative selection can cause rare variants to have larger per-allele effect sizes …

North African Jews constitute the second largest Jewish Diaspora group. However, their
relatedness to each other; to European, Middle Eastern, and other Jewish Diaspora groups; and …

Haplotype phasing is a fundamental problem in medical and population genetics. Phasing
is generally performed via statistical phasing in a genotyped cohort, an approach that can …

Recent work has hinted at the linkage disequilibrium (LD)-dependent architecture of human
complex traits, where SNPs with low levels of LD (LLD) have larger per-SNP heritability. …

… a–f, We benchmark ARG inference performance for ARG-Needle, ASMC-clust, Relate,
tsinfer and a variation of tsinfer for sparse data (‘tsinfer-sparse’) in realistic CEU demography …

Recent work has leveraged the extensive genotyping of the Icelandic population to perform
long-range phasing (LRP), enabling accurate imputation and association analysis of rare …

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 long, …

Data-driven studies of identity by descent (IBD) were recently enabled by high-resolution
genomic data from large cohorts and scalable algorithms for IBD detection. Yet, haplotype …

For more than a century, Jews and non-Jews alike have tried to define the relatedness of
contemporary Jewish people. Previous genetic studies of blood group and serum markers …

Understanding the role of rare variants is important in elucidating the genetic basis of human
diseases and complex traits. It is widely believed that negative selection can cause rare …