Background PLINK 1 is a widely used open-source C/C++ toolset for genome-wide association
studies (GWAS) and research in population genetics. However, the steady accumulation …

Hsu et al. used advanced methods from machine learning to analyze almost half a million
genomes. They produced, for the first time, accurate genomic predictors for complex traits such …

Preimplantation genetic testing (PGT) has been successfully applied to reduce the risk of
miscarriage, improve IVF success rates, and prevent inheritance of monogenic disease and …

We construct risk predictors using polygenic scores (PGS) computed from common Single
Nucleotide Polymorphisms (SNPs) for a number of complex disease conditions, using L1-…

Preimplantation genetic testing for polygenic disease risk (PGT-P) represents a new tool to
aid in embryo selection. Previous studies demonstrated the ability to obtain necessary …

For over 2 decades preimplantation genetic testing (PGT) has been in clinical use to reduce
the risk of miscarriage and genetic disease in patients with advanced maternal age and risk …

The human genome is diploid, and knowledge of the variants on each chromosome is important
for the interpretation of genomic information. Here we report the assembly of a haplotype…

The major histocompatibility complex (MHC) is one of the most variable and gene-dense
regions of the human genome. Most studies of the MHC, and associated regions, focus on …

Next-generation sequencing provides a high-resolution insight into human genetic information.
However, the focus of previous studies has primarily been on low-coverage data due to …

Background Mitochondria are a valuable resource for studying the evolutionary process
and deducing phylogeny. A few mitochondria genomes have been sequenced, but a …