The Mendelian Society of Lund has been publishing the journal Hereditas since 1920.
Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis
For a proportion of individuals judged clinically to have a recessive Mendelian disease, only one heterozygous pathogenic variant can be found from clinical whole exome sequencing (WES), posing a challenge to ...