Rare disease diagnostics and disease gene discovery have been revolutionized by whole‐
exome and genome sequencing but identifying the causative variant (s) from the millions in …

Metastatic progression of colorectal adenocarcinoma (CRC) remains poorly understood and
poses significant challenges for treatment. To overcome these challenges, we performed …

Background The cancer genome is commonly altered with thousands of structural
rearrangements including insertions, deletions, translocation, inversions, duplications, and …

Structural variants (SVs) represent a major source of genetic variation associated with
phenotypic diversity and disease susceptibility. While long-read sequencing can discover …

Background Autism spectrum disorder (ASD) is a neurodevelopmental condition
characterized by impaired social and communication skills, restricted interests, and …

Background Biallelic variants in EYS are the major cause of autosomal recessive retinitis
pigmentosa (arRP) in certain populations, a clinically and genetically heterogeneous …

Abstract Cyclin-dependent kinases 4 and 6 (CDK4/6) inhibitors demonstrated activity in
terms of progression-free survival (PFS) in advanced dedifferentiated liposarcoma (DD …

Much of the human genetics variant repertoire is composed of single nucleotide variants
(SNV) and small insertion/deletions (indel) but structural variants (SV) remain a major part of …

Familial aggregation of Hodgkin lymphoma (HL) has been demonstrated in large population
studies, pointing to genetic predisposition to this hematological malignancy. To understand …

Background Array-CGH is the first-tier genetic test both in pre-and postnatal developmental
disorders worldwide. Variants of uncertain significance (VUS) represent around 10~ 15% of …