Iron is essential for many biological functions and iron deficiency and overload have major
health implications. We performed a meta-analysis of three genome-wide association studies …

… The number of clustered mutations increases faster with the mother’s age than with the
father’s, and the genomic span of maternal de novo mutation clusters is greater than that of …

… base pair in the heptamer was observed as a SNP (S), across the first set of non-overlapping
windows. … The ratio S:H was then interpreted as the expected mutation rate of the heptamer, …

… Within the ZnF domain of the recombination hotspot positioning gene PRDM9, we identified
deletions of one, four and five ZnF(s) and insertions of one, two and four ZnF(s), resulting in …

Background : Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that
has no established therapy. The attribute of Lp(a) that affects cardiovascular risk is not …

… (a) Both parents are homozygous and the offspring’s genotype can be inferred. (b) At least
one parent is heterozygous and we cannot uniquely infer the offspring’s genotype. We can …

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unless indicated otherwise in a credit line to the material. If material is not included in the article’s …

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… Despite the germline’s importance, little is known about early DNMs and germ cell lineages.
To explore this, we sought ssDNMs in 251 couples with multiple offspring (Table 1). We …

Genotypes causing pregnancy loss and perinatal mortality are depleted among living
individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we …