For many years, linkage analysis was the primary tool used for the genetic mapping of
Mendelian and complex traits with familial aggregation. Linkage analysis was largely …

The advent of next-generation sequencing technologies has greatly promoted advances in
the study of human diseases at the genomic, transcriptomic, and epigenetic levels. Exome …

Haplotype-resolved genome sequencing enables the accurate interpretation of medically
relevant genetic variation, deep inferences regarding population history and non-invasive …

With the rapidly developing high-throughput sequencing technologies known as next
generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically …

In his book Analysis of Human Genetic Linkage Jurg Ott laid out the principles by which
geneticists perform studies of genetic linkage in humans. Here, in the Handbook of Human …

Massive parallel sequencing technology has become the predominant technique for genetic
diagnostics and research. Many genetic laboratories have wrestled with the challenges of …

In contrast to recessive conditions with biallelic inheritance, identification of dominant
(monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance …

Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological
processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are …

Do the frequencies of disease mutations in human populations reflect a simple balance
between mutation and purifying selection? What other factors shape the prevalence of …

High‐throughput sequencing technologies have become fundamental for the identification
of disease‐causing mutations in human genetic diseases both in research and clinical …