geo
@geovcnt
Cientista na UCLA.
ID: 108648255
26-01-2010 16:26:08
1,1K Tweet
268 Followers
428 Following
Vicente YĆ©pez Solve-RD Steve Laurie German Demidov rita.matos #eahg2024 For the long-read data, if youāre interested hereās our preprint Wouter Steyaert Lydia Sagath Solve-RD medrxiv.org/content/10.110ā¦
Fibertools is published in Genome Research! Ultra-fast m6A calling for PacBio #Fiberseq. Seamless processing of any long-read epigenetic or genetic data. Wonderful collaboration (tinyurl.com/3t3zz29f) led by Mitchell R. Vollger Anupama Jha, PhD ([email protected]) and Dr. Bohaczuk. genome.cshlp.org/content/early/ā¦
Inverted repeats are a hotspot of genomic instability. And a source of structural genomic diversity leading to #rarediseases. Exciting work with Christopher M. Grochowski, PhD Pacific Northwest Research Institute BCM HGSC Fritz Sedlazeck Anna Lindstrand Lupita Linares x.com/CellGenomics/sā¦
Phenotype, variant & gene queries, as well as genome-wide discoveries - all this is possible with the open access Solve-RD platform. Join our #EAN2024 workshop on June 29, 8:30 EEST with our coordinator Holm Graessner Holm Graessner! More information: ean-apps.m-anage.com/ean2024/en-GB/ā¦
How constrained is each gene in the human genome? Our work on estimating gene constraint using loss-of-function mutations along with gene features (expression patterns across tissues, protein language model embeddings, etc...) is now officially out! š§µ/8 nature.com/articles/s4158ā¦
I very much enjoyed writing this Nature News & Views piece on the RNU4-2 story. Please read on if you want to learn more about how a non-coding variant was discovered to be one of the most frequent causes for developmental diseases. (thx M. Rissom for sketch) nature.com/articles/d4158ā¦
What does it take to switch over to BAM from FASTQ? Thought provoking article by Lee Katz @[email protected], Sean Sierra-Patev, and Dhwani Govil Batra ubinfie.github.io/2024/06/06/swiā¦
As part of GREGoR Consortium , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods. authors.elsevier.com/c/1jcDA3vlFV4Eā¦
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach. Well done ā¦Carolina Jaramillo Oquendoā© new paper for lab. transcriptome finds mutations not found by DNA first pass ā¦Jenny Lordā© ā¦ā¦Htoo Aung Waiā© link.springer.com/article/10.118ā¦