… L 1 (X 1 ), ..., L 1 (X 8 )), we fold them to get the left probabilities of the reduced state space at
marker 1: ℒ 1 (Y 1 ), ℒ 1 (Y 2 ), and ℒ … to marker 6 to get ℒ 6 (Y 1 ), ℒ 6 (Y 2 ), and ℒ 6 (Y 3 ). …

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 …

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 ultimate goal of …

Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50%
of phenotypic variation in human height, but identifying the specific variants and …

Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied
prevalence worldwide owing to different dietary patterns and medication use 1 . Despite …

Mitochondrial DNA (mtDNA) profiles can be classified into phylogenetic clusters (haplogroups),
which is of great relevance for evolutionary, forensic and medical genetics. With the …

Both obesity and being underweight have been associated with increased mortality 1 , 2 .
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …

High-throughput technologies, such as next-generation sequencing, have turned molecular
biology into a data-intensive discipline, requiring bioinformaticians to use high-performance …

The human leukocyte antigen (HLA) locus is associated with more complex diseases than
any other locus in the human genome. In many diseases, HLA explains more heritability than …

Background SARS-CoV-2 entry in human cells depends on angiotensin-converting enzyme
2, which can be upregulated by inhibitors of the renin–angiotensin system (RAS). We aimed …