Complex presentation of hao-fountain syndrome solved by exome sequencing highlighting co-occurring genomic variants

HIGHLIGHTS

• who: Manuela Priolo and colleagues from the Target regions were captured using the Sure Select All Exon v, enrichment kit (Agilent, Santa Clara, CA, USA) and sequenced on a Novaseq, platform (Illumina, San Diego, CA, USA). WES raw data were processed and analyzed using a previously described in-house implemented pipeline [22-24] mainly based on the Genome Analysis Toolkit (GATK) Best Practices [25]. Briefly, the University of California Santa Cruz (UCSC) Genome Reference Consortium Human genome, build , (GRCh37)/Human Genome, version , (hg19) genome assembly was used as reference for reads alignment by means of the Burrows . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or Email

  Password

  Remember me

  Lost your password?

  If you don't have an account, you can create one here.