Pfam, available via servers in the UK ( http://pfam.sanger.ac.uk/ ) and the USA ( http://pfam.janelia.org/
), is a widely used database of protein families, containing 14 831 manually …

In the last two years the Pfam database ( http://pfam.xfam.org ) has undergone a substantial
reorganisation to reduce the effort involved in making a release, thereby permitting more …

Pfam is a widely used database of protein families, currently containing more than 13 000
manually curated protein families as of release 26.0. Pfam is available via servers in the UK ( …

The Rfam database (available at http://rfam.xfam.org ) is a collection of non-coding RNA
families represented by manually curated sequence alignments, consensus secondary …

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders 1 . However, genes known to be associated with developmental disorders account …

Background Pediatric disorders include a range of highly penetrant, genetically heterogeneous
conditions amenable to genomewide diagnostic approaches. Finding a molecular …

Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; …

Objective To evaluate the utility of prenatal exome sequencing (ES) for isolated increased
nuchal translucency (NT) and to investigate factors that increase diagnostic yield. Design …

Objective To determine the incremental yield of antenatal exome sequencing (ES) over
chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed …

Purpose To determine the diagnostic yield of combined exome sequencing (ES) and autopsy
in fetuses/neonates with prenatally identified structural anomalies resulting in termination …