#VCFs

Javier Santoyo

@jsantoyo.bsky.social

8 months ago

AdaGenes: A streaming processor for high-throughput annotation and filtering of sequence variant data. #GeneticVariants #VariantFiltering #VariantAnnotation #VCFs #Genomics #Bioinformatics @biorxiv-bioinfo.bsky.social‬ 🧬 🖥️
www.biorxiv.org/content/10.1...

Music Festival Gestures

@meetinghouse.bsky.social

1 year ago

Book cover of a childrens book. "The abilities in Me" book series title is at the top in the clouds. 22q deletion is the book title in red. In the background are green hills and river. A smiling child is depicted waving. Gemma Keir (author) and illustrated by Adam Walker-Parker

Rare Disease Day is a moment to provide a little awareness in your day about the people in our communities living with rare conditions

22q11.2 deletion syndrome #22q #VCFS Velo Cardio Facial Syndrome and #DiGeorge

Gemma Keir authored a children's book series
#AbilitiesInMe

nddpsych

@nddpsych.bsky.social

1 year ago

Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 Deletion Syndrome The 22q11.2 Deletion Syndrome (22q11.2DS) is a multisystem genetic disorder with prominent sleep disturbances, neuropsychiatric conditions and neuroco…

Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 Deletion Syndrome - Souders et al - Psychiatric Research - 2024 #vcfs #22q11 www.sciencedirect.com/science/arti...