Exome sequencing (ES) is commonly used to diagnose Mendelian disorders, which occur when pathogenic variant(s) in a gene are ...

Researchers hope that identifying the genomic alterations specific to transformed small cell lung cancer (SCLC) can help ...

Other classes of CNV have resisted even a basic level of ... their method to deep (6- to 20-fold coverage) next-generation sequence data from three human genomes, two sequenced using Illumina ...