STUDY HYPOTHESIS Exome sequencing can identify genetic causes of idiopathic recurrent
pregnancy loss (RPL). STUDY FINDING We identified compound heterozygous deleterious …

Autozygosity, or the inheritance of two copies of an ancestral allele, has the potential to not
only reveal phenotypes caused by biallelic mutations in autosomal recessive genes, but to …

The recent expansion of next-generation sequencing has significantly improved biological
research. Nevertheless, deep exploration of genomes or metagenomic samples remains …

DIDA (DIgenic diseases DAtabase) is a novel database that provides for the first time
detailed information on genes and associated genetic variants involved in digenic diseases …

Copy number variation (CNV) is a common source of genetic variation that has been
implicated in many genomic disorders. This has resulted in the widespread application of …

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

STUDY QUESTION Can whole-exome sequencing (WES) of patients with multiple
morphological abnormalities of the sperm flagella (MMAF) identify causal mutations in new …

Gene discovery using massively parallel sequencing has focused on phenotypes diagnosed
postnatally such as well‐characterized syndromes or intellectual disability, but is rarely …

Congenital heart disease (CHD) is a multifaceted cardiovascular anomaly that occurs when
there are structural abnormalities in the heart before birth. Although various risk factors are …

The advent of next-generation sequencing technologies has enabled genetic nephrology
research to move beyond single gene analysis to the simultaneous investigation of …