Discover and read the best of Twitter Threads about #mosaicism
Most recents (2)
1) Welcome to this #accredited #tweetorial on genetic testing in the evaluation of patients with cystic kidney disease. #Kidney #cysts are a frequent finding, ranging from simple cysts to suspected or confirmed #ADPKD.
Expert author @dguerrot of @CHURouen 🇫🇷 leads us!
Expert author @dguerrot of @CHURouen 🇫🇷 leads us!
2) This program is supported by an educational grant from Otsuka Pharmaceuticals & is intended for #HCPs. #Physicians #Physicianassociates #nurses #nursepractioners #pharmacists 🇺🇸🇨🇦🇪🇺🇬🇧 earn CE/#CME credit. Statement of accreditation & faculty disclosures ckd-ce.com/disclosures
3a) Fortuitous discovery of non-malignant kidney cysts is increasingly frequent with age, and often leads to #nephrology referral.
Ever wondered if and how #recombination of #retroelements contributes to #somatic #mosaicism? Read about it in our new pre-print:
Non-allelic homologous recombination of Alu and LINE-1 elements generates somatic complexity in human genomes. biorxiv.org/content/10.110…
Non-allelic homologous recombination of Alu and LINE-1 elements generates somatic complexity in human genomes. biorxiv.org/content/10.110…
1/ Background: pathogenic non-allelic homologous recombination (NAHR) of Alu and LINE-1 has been found in several genomic disorders and #cancer types. We thought this could be just the tip of the iceberg of a physiological recombinogenic activity of retroelements.
2/ The excellent Martin Frith developed a fresh pipeline to identify non-allelic homologous recombination (NAHR) in short and long-reads libraries: 🦖TE-reX🦖. It smartly focuses on split reads that join repeat elements at homologous positions.
