Read-counting for PGT-A
Introductory article about Pre-Implantation "Genetic Testing for Aneuploidy" using sequencing-based read-counting.
Microdeletion and Microduplication Syndromes in the Human Genome
List of known Microdeletion and Microduplication Syndromes as of 2012
CRAM format notes
CRAM files are compressed versions of BAM files containing (aligned) sequencing reads. They represent a further file size reduction for this type of data that is generated at ever increasing…
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