Morghan Lucas
@morghanlucas.bsky.social
Co-lead R&D at MGZ Medical Genetics Center Munich • Former PhD student/postdoc in @NovoaLab at @CRGenomica • she/her
A huge thanks to my wonderful co-authors at the Medical Genetics Center (MGZ) for their expertise and collaboration on this review:
👤 Thomas Keßler
👤 Florentine Scharf
👤 Verena Steinke-Lange
👤 Barbara Klink
👤 Andreas Laner
👤 Elke Holinski-Feder
www.mgz-muenchen.de
👤 Thomas Keßler
👤 Florentine Scharf
👤 Verena Steinke-Lange
👤 Barbara Klink
👤 Andreas Laner
👤 Elke Holinski-Feder
www.mgz-muenchen.de
Startseite - Medizinisch Genetisches Zentrum
Das MGZ - Medizinisch Genetische Zentrum bietet humangenetische Beratung und Diagnostik für alle Teilbereiche der Humangenetik an.
www.mgz-muenchen.de
May 5, 2025 at 8:51 AM
A huge thanks to my wonderful co-authors at the Medical Genetics Center (MGZ) for their expertise and collaboration on this review:
👤 Thomas Keßler
👤 Florentine Scharf
👤 Verena Steinke-Lange
👤 Barbara Klink
👤 Andreas Laner
👤 Elke Holinski-Feder
www.mgz-muenchen.de
👤 Thomas Keßler
👤 Florentine Scharf
👤 Verena Steinke-Lange
👤 Barbara Klink
👤 Andreas Laner
👤 Elke Holinski-Feder
www.mgz-muenchen.de
🧵 4. Why this review?
With the MMR VCEP refining ACMG/AMP rules (🔗), now’s the time to examine how classification is done—and how new technologies can strengthen precision diagnostics for hereditary cancer.
www.medrxiv.org/content/10.1...
With the MMR VCEP refining ACMG/AMP rules (🔗), now’s the time to examine how classification is done—and how new technologies can strengthen precision diagnostics for hereditary cancer.
www.medrxiv.org/content/10.1...
May 5, 2025 at 8:51 AM
🧵 4. Why this review?
With the MMR VCEP refining ACMG/AMP rules (🔗), now’s the time to examine how classification is done—and how new technologies can strengthen precision diagnostics for hereditary cancer.
www.medrxiv.org/content/10.1...
With the MMR VCEP refining ACMG/AMP rules (🔗), now’s the time to examine how classification is done—and how new technologies can strengthen precision diagnostics for hereditary cancer.
www.medrxiv.org/content/10.1...
🧵 3. What’s next?
We highlight how long-read sequencing, RNA-seq & AI-based tools like AlphaMissense and EVE might close the gap on MMR VUS interpretation
We highlight how long-read sequencing, RNA-seq & AI-based tools like AlphaMissense and EVE might close the gap on MMR VUS interpretation
May 5, 2025 at 8:51 AM
🧵 3. What’s next?
We highlight how long-read sequencing, RNA-seq & AI-based tools like AlphaMissense and EVE might close the gap on MMR VUS interpretation
We highlight how long-read sequencing, RNA-seq & AI-based tools like AlphaMissense and EVE might close the gap on MMR VUS interpretation
🧵 2. Functional assays
What’s the role of assays like CIMRA, deep mutational scanning, and RNA-seq in classifying MMR variants? Our review compares their strengths, limitations & evidence levels under ACMG/AMP criteria.
What’s the role of assays like CIMRA, deep mutational scanning, and RNA-seq in classifying MMR variants? Our review compares their strengths, limitations & evidence levels under ACMG/AMP criteria.
May 5, 2025 at 8:51 AM
🧵 2. Functional assays
What’s the role of assays like CIMRA, deep mutational scanning, and RNA-seq in classifying MMR variants? Our review compares their strengths, limitations & evidence levels under ACMG/AMP criteria.
What’s the role of assays like CIMRA, deep mutational scanning, and RNA-seq in classifying MMR variants? Our review compares their strengths, limitations & evidence levels under ACMG/AMP criteria.
🧵 1. Why this matters
⚠️ 42.6% of MMR gene variants are still classified as VUS—leaving many Lynch syndrome patients without a clear diagnosis. Our review outlines how integrating experimental and computational tools can change that.
⚠️ 42.6% of MMR gene variants are still classified as VUS—leaving many Lynch syndrome patients without a clear diagnosis. Our review outlines how integrating experimental and computational tools can change that.
May 5, 2025 at 8:51 AM
🧵 1. Why this matters
⚠️ 42.6% of MMR gene variants are still classified as VUS—leaving many Lynch syndrome patients without a clear diagnosis. Our review outlines how integrating experimental and computational tools can change that.
⚠️ 42.6% of MMR gene variants are still classified as VUS—leaving many Lynch syndrome patients without a clear diagnosis. Our review outlines how integrating experimental and computational tools can change that.