Coding exons selected for Next Generation Sequencing in Friesian horses with hydrocephalus. A .bed file describing the targeted regions, including chromosome number, start and end position (in base pa
In this dataset, exome and genome sequencing for suspected primary ciliary dyskinesia cohort, including FASTQ, VCF, and BAM files. 61 participants and their family members had exome sequencing perform
Additional file 1. Rare protein-changing genetic variants identified in the proband by whole exome sequencing. The table provides information on missense, nonsense, frameshift and splicing genetic var
ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq p