GenomicsbioRxivPreprint
Identifying long indels in exome sequencing data of patients with intellectual disability
Sander Pajusalu, Rolph Pfundt, Lisenka E.L.M. Vissers…·Jayne Y. Hehir‐Kwa
The paper evaluates long indel detection in exome sequencing data from intellectual disability patients, identifying three pathogenic indels and highlighting the importance of accurate variant calling.
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