Five years on from our award-winning review on Nextgeneration sequencing and emerging
technologies, 1 a rapid pace of fundamental advances has markedly altered the landscape …

Variants that alter gene splicing are estimated to comprise up to a third of all disease-
causing variants, yet they are hard to predict from DNA sequencing data alone. To overcome …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic
cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10 …

This invited review follows the oral presentation" To Sequence or Not to Sequence, That Is
Not the Question; But" When, Who, Which and What For?" Is “given during the State Of the …

Noonan Syndrome (NS) is associated with an increased risk of low-grade central nervous
system tumours in children but only very rarely associated with high-grade gliomas. Here we …

Intronic deletions that critically shorten donor-to-branchpoint (D-BP) distance of a precursor
mRNA impose biophysical space constraint on assembly of the U1/U2 spliceosomal …

Exhaustive efforts have been dedicated to uncovering genomic aberrations linked to cancer
susceptibility. Noncoding sequence variants and epigenetic alterations significantly …

Genetic diagnostics are being increasingly utilized in both academic and clinical nephrology
practice [1–4]. Confirming a genetic diagnosis in families with genetic kidney disease has …

Rare diseases are individually uncommon, but cumulatively affect 1 in 17 people.
Development of next generation sequencing technologies including whole genome …