STRIDE-DB: a comprehensive database for exploration of instability and phenotypic relevance of short tandem repeats in the human genome academic.oup.com/database/artic… CSIR-IGIB
way forward for mapping Unsolved rare disorders and missing inheritance....!! new from our Lab.

How to pick a problem. Today in Cell. 1/53
cell.com/cell/fulltext/…

New Sniffles (SV caller for PacBio & Oxford Nanopore ) version public github.com/fritzsedlazeck… . . Improvements on sample merging & smaller issues. Going forward more consistent releases to come and thanks everyone for reporting issues!
Luis Paulin, PhD BCM HGSC BCMHouston Rice Computer Science

Death of a legendary physicist who was born in #Newcastle , laid foundations for Higgs boson particle, received The Nobel Prize
in 2013 & named one of 20 local heroes of Newcastle. Had fortune of listening to him live Life Science Centre in 2014. RIP Prof. Higgs 🙏⚛️

Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis.
University of Helsinki

doi.org/10.1016/j.ebio…
eBioMedicine – The Lancet Discovery Science

Interested in early-onset cancers? Don't miss this Spotlight commentary on early-onset #colorectalcancer .
bit.ly/43U0dun
#AACR24

It's outcomes like this that makes me feel very happy and proud to be a #geneticist
#clinicalcare #healthybaby #happyfamily #care #FRIGE

Who will get a #genetic diagnosis? Pucel et al. identify factors that predict the odds of getting a diagnosis by #exome and #genome sequencing bit.ly/3Q0yP83

Mind 🤯! What an observation this is, especially for #NDD cases.. Kudos to Nicky Whiffin et al

🧐 for a practical #CRC Screening resource for common clinical 🤷🏽‍♀️
➡️ Does 💊 or lifestyle 📉 risk of #CRC ❓️
➡️ What are the ⚖️ of different screening options❓️
➡️ What is the best test? Spoiler alert...it's the test that gets done (and done well) ‼️
tinyurl.com/2v7aw3z8

Places on Earth that don't look real - thread 🧵

1. Namibia, where the desert meets the ocean

Exome sequencing is as good as microarrays for finding pathogenic copy number variants! Evidence is very clear from DDD study & supports replacing current 2-step diagnostic process with single genome-wide sequencing approach for dev disorders.
news.exeter.ac.uk/faculty-of-hea…

Awesome piece of work! Let's go get some ice ❄️❄️

Heartiest congratulations to the entire team of scientists ImmunoACT IIT Bombay CAR-T & Cell Therapy Centre (CTCTC) ACTREC_TMC ! This is a major breakthrough, one which will help patients immensely. #CART #oncology #lowcost #therapy

🚨 New paper from the Male Infertility and Germ Cell Biology lab

We have identified a new regulator of protein entry into the sperm tail - CEP76

life-science-alliance.org/content/7/6/e2…

BioSciences UniMelb Moira O'Bryan

Universal Germline and Tumor Genomic Testing Needed to Win the War Against Cancer: Genomics Is the Diagnosis | Journal of Clinical Oncology ascopubs.org/doi/full/10.12…

Absolutely golden 🧵

A comprehensive 5★ perspective/review on cancer as a complex, systemic disease with all the hallmarks cell.com/cell/fulltext/… Cell by Charles Swanton and colleagues