Author: Felix Kokocinski

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…
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