Joel A. Morales-Rosado, MD

MGP Fellow @mayoclinicpath 🧬AP/CP 🔬@vumcpathology🧪PostDoc @MayoClinicCIM 🏥@medupr🦉 #UPRH 🍨📚 🇵🇷🏳️‍🌈🤓he/him/él

[Daniel Colón Ramos @dacolon]

This is a great resource @UMR4NIH but please include Puerto Rico and other US territories here. Puerto Rico receives substantial funds from the NIH, the population is larger than 20 states and is a significant contributor to the scientific workforce. Pls do not invisibilize it

[Eric Green @NHGRI_Director]

In May 2000, with the generation of a working draft sequence of the human genome nearly complete, Human Genome Project scientists (including myself) started speculating about the number of human genes.

[Genome Aggregation Database @gnomad_project]

Proportion expressed across transcripts (pext), using GTEx v10, is now available on #gnomAD v4!

[Yuyang Chen @quenchentin]

(1/4) I’m delighted to announce that our research on RNU4-2 is now out on @Nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint: https://t.co/zohcc2fGGT

[Joel A. Morales-Rosado, MD @_joel_morales]

Long overdue picture update.
And just like that… PGY4, here we go!
😨🫨🤓Time flies 🧬🔬
#NewProfilePic

[Alex Ferrer @DrAlexFerrer]

Our semiautomated pipeline approach, RENEW, allows prioritization and rapid reanalysis of unsolved exome/genome sequencing data. This will help with the ever growing problem of undiagnosed rare cases undergoing these tests. #MayoClinic #CIM #raredisease
https://t.co/Sgrj6isuL9

[Genome Aggregation Database @gnomad_project]

The #gnomAD v3 papers are now published! This includes the non-coding constraint paper (https://t.co/akE9LGWymJ) & inferring compound heterozygosity paper (https://t.co/1Gw1sTrxWI). Congratulations to everyone who contributed to this valuable work! (1/2)

[David Steensma, MD @DavidSteensma]

Did you ever wonder why our marrow is located inside of our *bones*, #MedTwitter? There’s no a priori anatomical reason it should be sited there. Blood cells could form in our spleens & livers, as they do during our fetal lives; or elsewhere, as in some animals. Let’s discuss! /1

[Joel A. Morales-Rosado, MD @_joel_morales]

@KMirza @MMars24_DO @megothelioma @VUMCPathology @AMPath @MMars24_DO 😂🤣 I love it! Long live the Mirza-Smith house! (minus the AMP fathering- misinformation! sacrilege!)

[Joel A. Morales-Rosado, MD @_joel_morales]

👨‍👩‍👧‍👦 My Twitter Family:
👫 Parents: @megothelioma @KMirza
👰 Spouse: @VUMCPathology
👶 Children: @MMars24_DO @AMPath

➡️ https://t.co/dLPfqfaW2i

[Marcin Imieliński @skimomiks]

out today in @NatureGenet 🎉!!! our study applying a simple physical principle (mass balance) to deconstruct the notion that you need long reads to detect large variants in cancer https://t.co/Qivbjnd3Km 1/🧶

[Association for Molecular Pathology @AMPath]

The FDA's proposed rule on #LDPs will disrupt patient access to critical diagnostics. FDA NEEDS to get this policy right. AMP and over 90 other organizations urge FDA to extend the deadline! #LDTs https://t.co/UDryO2XfaB #molpath #pathX

[Kamran Mirza MD PhD - کامران مرزا @KMirza]

Looking forward to this fun event hosted by #UIWSOM and @Path_SIG - open invitation for all #MedStudentTwitter #MedStudentX to join the conversation! #pathology #path2path 11/13/23 4 PM CT

cc: @MatchToPath @Inside_TheMatch @Pathologists @ASCP_Chicago @TheUSCAP

Click: https://t.co/WQ54sbIfxn

[Genome Aggregation Database @gnomad_project]

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry https://t.co/YKXIFlZwSi #ASHG23 (1/11)

[Anant Madabhushi @anantm]

Two papers out from the group today. The first in @LIjournal "Visual assessment of 2D levels within 3D pathology datasets of prostate needle biopsies reveals substantial spatial heterogeneity". Work with @jonliu123 and colleagues.
https://t.co/IrogS7Jcrs

[Andres Moreno-Estrada @morestrada]

The MX Biobank paper is out today in @Nature! This is the first national-scale genomic database in Mexico and the largest independent project led by my lab @cinvestav since I returned to my home country to help building local capacity. https://t.co/uXt4xhYkhT

[Steven Salzberg 💙💛 @StevenSalzberg1]

Our paper is out in @nature! This is from a @cshlbanbury meeting where a group of scientists got together to ask, can we ever identify the complete set of human genes? And how do we do that? with @elapertea @av_sparrow @carninci and many others https://t.co/YWXUcCAfFy

[Heidi Rehm @HeidiRehm]

In this paper (free version here https://t.co/8gYNcaRxmu) we looked at 1.5 million genetic tests on symptomatic people: Over 30% were inconclusive due to VUS. But genomic tests had a lower VUS rate than panel tests because we only put the stronger evidence VUS on reports! 1/3

[Association for Molecular Pathology @AMPath]

AMP statement: If finalized, FDA's proposed rule will impede the ability of clinical laboratories to rapidly develop, validate, and offer high-quality, innovative laboratory developed testing procedures (#LDPs) for patient care. https://t.co/MC0f2a7xyn #LDTs #molpath #pathX