Exome sequencing (ES) and genome sequencing (GS) have radically transformed the
diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation …

Inflammatory bowel disease (IBD) is a group of complex, multifactorial disorders
characterized by chronic inflammation of the gastrointestinal tract. The three subtypes of IBD …

Purpose Widespread application of next-generation sequencing, combined with data
exchange platforms, has provided molecular diagnoses for countless families. To maximize …

The evaluation of individuals with a suspected genetic disorder has evolved rapidly over the
past 10 years with the introduction of new testing modalities, such as exome sequencing …

Purpose Genome sequencing (GS) may shorten the diagnostic odyssey for patients, but
clinical experience with this assay in nonresearch settings remains limited. Texas Children's …

Background: The UK 100,000 Genomes Project was a transformational research project
which facilitated whole genome sequencing (WGS) diagnostics for rare diseases. We …

The NFIX gene encodes a DNA‐binding protein belonging to the nuclear factor one (NFI)
family of transcription factors. Pathogenic variants of NFIX are associated with two …

Аннотация Редкие и неизвестные заболевания многочисленны и гетерогенны по своей
природе, характеризуются низкой распространенностью и относительно высокими …

Congenital skeletal disorders, also called skeletal dysplasias, constitute a diverse group of
rare genetic conditions that occur in approximately 1 per 3000-5000 births. Skeletal …

Background: The UK 100,000 Genomes Project was a transformational research project
which facilitated whole genome sequencing (WGS) diagnostics for rare diseases. We …