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Genomics Revolution

Brad Goodner

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Monthly
 
Podcast associated with Hiram College Genetics course. Focus is on the history of genomics and how a genomic view of life has impacted basic science as well as applied fields such as medicine and agriculture.
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Genetics Unzipped

The Genetics Society

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From Mendel's peas to personal genome sequencing, Genetics Unzipped brings you stories from the world of genes, genomes and DNA. In association with The Genetics Society.
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The New England Biolabs podcast series, Lessons from Lab and Life, is dedicated to sharing helpful life lessons from successful scientists. From an overview of cutting edge research to finding sources of inspiration, our podcast is for science enthusiasts that like to ponder “what it all means”. Listen as leading researchers draw lessons from where scientific concepts (and misconceptions) have come from, where they are now, and where they are headed in the not-too-distant future. If you’ve g ...
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Join Dr. DNA Dan as he dives deep into the world of genetics, genomics, DNA, and the future of precision genomic medicine. Dan discusses topics ranging from health and ancestry genetic testing, forensic genetics, genetics, and mental health, common myths about genetics, and more. DNA Dan, SCU Professor of Genomics, Dan Handley, M.S., Ph.D., shares his knowledge from his over 30 years of experience in the world of advanced genomics research and biotechnology. For more information about Southe ...
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Welcome to For Whom the Cell Tolls! This cast explores the fascinating stories of Biology that I've encountered in my journey as a Biology Professor and lymphoma scientist at Minnesota State University and my previous experience at Mayo Clinic. Major themes to be explored include cancer, tumorigenesis, new therapy mechanisms, immunology, life/death, disease ecology, microbiology, and evolution, among others. I try to integrate philosophy, culture, and the arts alongside emerging Biology find ...
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Welcome to the official Labiotech.eu podcast - Beyond Biotech! Each week, we talk about what's happening in the world of biotech, with news and interviews with experts from companies around the world. Join us as we cover the latest news, breakthroughs and innovations shaping the life sciences industry.A new podcast episode is available every Friday. The host is Dylan Kissane.
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Secrets From the Crime Lab

practicalforensics.science

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A podcast for practitioners, professionals, and enthusiasts of forensic science, applied science, and science related topics: exploring the truth of true crime. Learn about the real forensic science behind the cases, how it actually works behind the closed doors of the crime lab, and what happens when it fails or is misunderstood. Hosted by a scientist with over twenty years of laboratory experience, this podcast discusses the challenges and nuances of the forensic fields from her own experi ...
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A good mentor can be the difference between success and failure. But what to do if you don't have help on hand? Mentors At Your Benchside provides curated help and advice from experienced researchers on various topics, from lab skills and techniques to career progression. Each short episode is bursting with easy-to-access help and advice that can improve your results and help you get the most out of your time in the lab. https://bitesizebio.com/mentors-at-your-benchside
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Base by Base

Gustavo Barra

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Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.
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Outsmart Your Genes – A Podcast by Sequencing.com Your DNA doesn’t define you—your choices do. Outsmart Your Genes is the podcast that empowers you with genetic insights to take control of your health. Brought to you by Sequencing.com, we explore how whole genome sequencing, AI-driven analysis, and precision medicine are revolutionizing healthcare. Every episode features leading experts, patient advocates, and real-life stories of individuals using their genetic data to prevent disease, opti ...
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️ Episode 149: Cultural Hitchhiking and the Post‑Neolithic Y‑Chromosome Bottleneck In this episode of PaperCast Base by Base, we explore how patrilineal social structures and intergroup competition can reshape genetic diversity, offering a cultural explanation for the striking male‑specific bottleneck observed 5,000–7,000 years ago across the Old W…
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Immunology and inflammation are hot topics in biotech and biopharma, and innovations are emerging that can change the game for patients suffering from autoimmune, gastrointestinal, and metabolic disease. For top pharma companies, identifying these innovations early is essential and, for university labs, spinouts and startups, getting their science …
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Hear from Valadimir Potapov, a Bioinformaticist here at NEB and an important part of the team that builds online tools to aid both NEB scientists and our customers in calculations and experimental design. Valdimir joins us to talk through the open access Ligase Fidelity Tools which are used to aid in the design of DNA Assembly via the Golden Gate m…
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️ Episode 148: Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants In this episode of PaperCast Base by Base, we explore a comprehensive functional assessment of splice-site variants in CHEK2 using reporter minigenes, revealing how disrupted pre-mRNA splicing contributes to hereditary b…
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️ Episode 147: Comprehensive Annotation of Complete ABO Alleles and Resolution of ABO Variants In this episode of PaperCast Base by Base, we explore a groundbreaking study that introduces an improved long-read sequencing method to fully resolve ABO haplotypes, spanning from the 5′ to the 3′ untranslated regions. This work addresses a major gap in b…
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️ Episode 146: Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA in Solid Tumors In this episode of PaperCast Base by Base, we explore the clinical feasibility of an automated and decentralized cfDNA sequencing system designed to identify actionable and resistance alterations in advanced solid tumors. Study Highlights: Researche…
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️ Episode 145: A Validated Highly Sensitive Microsatellite Instability Assay Identifies PMS2 Variants in CMMRD In this episode of PaperCast Base by Base, we explore a study that validates a next-generation sequencing-based highly sensitive microsatellite instability (hs-MSI) assay for the diagnosis of constitutional mismatch repair deficiency (CMMR…
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️ Episode 144: Revised time estimation of the ancestral human chromosome 2 fusion In this episode of PaperCast Base by Base, we explore a study that revisits one of the most defining events in human evolution: the fusion that gave rise to chromosome 2. This work refines previous estimates and provides a clearer timeline for when this pivotal genomi…
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️ Episode 143: The genetic history of the Southern Caucasus: 5,000 years of continuity despite high mobility In this episode of PaperCast Base by Base, we explore a comprehensive archaeogenomic study tracing 230 ancient individuals from Georgia and Armenia over 5,000 years, from the Bronze Age to the Early Middle Ages. The research investigates how…
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️ Episode 142: Specifications of the ACMG/AMP Guidelines for PALB2 Variant Interpretation In this episode of PaperCast Base by Base, we explore how the Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel (HBOP VCEP) developed gene-specific ACMG/AMP guidelines for the interpretation of PALB2 germline sequence variants, a …
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Partnering conferences are where many deals in the biotech industry get made. With investors and top pharma companies on hand to meet with founders, learn about new science, and put money on the table for promising biotech, it’s little wonder that the biggest partnering events attract hundreds of innovators and thousands of attendees. One of the la…
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️ Episode 141: RetiGene, a comprehensive gene atlas for inherited retinal diseases In this episode of PaperCast Base by Base, we explore RetiGene, an expert-curated resource that consolidates genetic, transcriptomic, and functional information on inherited retinal diseases (IRDs). The study highlights the urgent need for a unified gene catalog to g…
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️ Episode 140: Landscapes of missense variant impact for human superoxide dismutase 1 In this episode of PaperCast Base by Base, we explore a large-scale functional analysis of missense variants in SOD1, a key gene implicated in amyotrophic lateral sclerosis (ALS). The study addresses the challenge of classifying variants of uncertain significance …
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️ Episode 139: MosCoverY: A new method to estimate mosaic loss of Y chromosome from sequencing coverage data In this episode of PaperCast Base by Base, we explore the development of MosCoverY, a computational method designed to detect and quantify mosaic loss of the Y chromosome (mLOY) from exome and whole-genome sequencing data. This condition, th…
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️ Episode 138: Social exposome and brain health outcomes of dementia across Latin America In this episode of PaperCast Base by Base, we explore how a multidimensional social exposome across the lifespan—covering education, food insecurity, financial status, assets, access to healthcare, childhood labor, subjective socioeconomic status, childhood ex…
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️ Episode 137: Rethinking RNA-binding proteins: Riboregulation challenges prevailing views In this episode of PaperCast Base by Base, we explore how a sweeping expansion of the RNA-binding proteome has reframed long‑held assumptions about RNA–protein interactions, spotlighting ‘non‑canonical’ RBPs and the emerging concept of riboregulation—RNA dire…
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️ Episode 136: Gene Context Drift Identifies Drug Targets to Mitigate Cancer Treatment Resistance In this episode of PaperCast Base by Base, we explore RECODR, a graph‑embedding pipeline that reads single‑cell and single‑nucleus transcriptomes as co‑expression networks to quantify “gene context drift” during therapy and expose druggable vulnerabili…
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️ Episode 135: Global impact of micronutrients in modern human evolution In this episode of PaperCast Base by Base, we explore how dietary micronutrients have influenced modern human evolution. The study investigates the role of essential minerals in shaping genetic adaptation and highlights the health risks posed by imbalances in micronutrient ava…
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How can you guarantee that top pharma will be interested in investing in your biotech startup? How can you be sure that the target you are focused on will be attractive to industry partners? And can AI help drive this interest and deliver these partnerships? These are questions that this week’s guest, Mati Gill, CEO of AION Labs in Israel, is perfe…
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️ Episode 134: Single-Cell Maps Link Intestinal Metaplasia to Esophageal Adenocarcinoma Risk In this episode of PaperCast Base by Base, we explore how single-cell RNA sequencing of Barrett’s esophagus (BE), esophageal adenocarcinoma (EAC), and matched normal tissues reveals which cell types carry germline-linked risk and shape progression toward ca…
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️ Episode 133: Culture-Independent Meta‑Pangenomics Reveals Gut Genome Links to Child Growth In this episode of PaperCast Base by Base, we explore how long‑read metagenomics enables recovery of complete metagenome‑assembled genomes directly from fecal samples of Malawian toddlers and applies meta‑pangenomics and microbial GWAS to connect microbial …
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️ Episode 132: Tumor transcriptome classifiers predict treatment sensitivity in advanced prostate cancer In this episode of PaperCast Base by Base, we explore how transcriptome-wide RNA expression classifiers from advanced prostate cancers can inform treatment selection and improve patient outcomes. Study Highlights: Researchers analyzed tumor tran…
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️ Episode 131: pBI143: The Human Gut’s Hidden Heavyweight In this episode of PaperCast Base by Base, we explore how a tiny 2.7 kb cryptic plasmid, pBI143, emerges as one of the most numerous genetic elements in industrialized human gut microbiomes, mobilizes across Bacteroidales, persists as monoclonal lineages with vertical transmission, and incre…
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️ Episode 130: Combining Evidence from Human Genetic and Functional Screens to Identify Pathways Altering Obesity and Fat Distribution In this episode of PaperCast Base by Base, we explore a large-scale study that integrates genetic association testing with functional CRISPR experiments in human adipocytes to uncover mechanisms influencing obesity …
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️ Episode 129: Structural variation and diversification of the NPIP gene family from the human pangenome In this episode of PaperCast Base by Base, we explore how long-read sequencing technologies reveal the structural variation, evolutionary pressures, and expression patterns of the NPIP gene family, one of the most positively selected gene famili…
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️ Episode 128: LINE‑1 Promoters Orchestrate Early Human Brain Development In this episode of PaperCast Base by Base, we explore how evolutionarily young LINE‑1 retrotransposons are actively expressed in human induced pluripotent stem cells and function as cis‑acting promoters that shape primate‑ and human‑specific transcript isoforms during early n…
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Lonza is one of the world’s largest contract development and manufacturing organizations (CDMOs), dedicated to serving the healthcare industry. They work alongside a broad range of customers – from emerging biotechs to top global pharmaceutical companies – to transform therapeutic discoveries into life-saving and life-enhancing treatments for their…
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️ Episode 127: In silico generation of synthetic cancer genomes using generative AI In this episode of PaperCast Base by Base, we explore OncoGAN, a generative AI pipeline designed to produce highly realistic synthetic cancer genomes. The study addresses the challenge of limited access to real cancer genomes due to privacy concerns by creating shar…
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️ Episode 126: Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models In this episode of PaperCast Base by Base, we explore a study that investigates the molecular and developmental mechanisms underlying Smith-Magenis syndrome (SMS) using human induced pluripotent stem cell (hiPSC)-derived cort…
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️ Episode 125: Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities In this episode of PaperCast Base by Base, we explore how the Global Parkinson’s Genetics Program (GP2) is addressing the critical lack of diversity in Parkinson’s disease genetics research. The article outlines the p…
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️ Episode 124: Exploring the Omnigenic Architecture of Selected Complex Traits In this episode of PaperCast Base by Base, we explore how researchers are uncovering the organizational principles behind complex traits through the lens of the omnigenic model. The study focuses on ulcerative colitis as a case example and investigates how core and perip…
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️ Episode 123: Dominant‑Negative ATP5F1A Variants Uncouple Complex V and Drive Neurological Disease In this episode of PaperCast Base by Base, we explore how de novo heterozygous ATP5F1A missense variants disrupt mitochondrial ATP synthase and manifest as pediatric neurological disorders, revealing a dominant‑negative mechanism and an isolated Comp…
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️ Episode 122: Patient Stratification Reveals the Molecular Basis of Disease Co-Occurrences In this episode of PaperCast Base by Base, we explore a study that investigates the molecular underpinnings of why certain diseases tend to co-occur. By using large-scale RNA sequencing data, the authors present a novel approach to identify disease co-occurr…
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️ Episode 121: G-quadruplexes as a Source of Vulnerability in BRCA2-deficient Granule Cell Progenitors and Medulloblastoma In this episode of PaperCast Base by Base, we explore how DNA secondary structures called G-quadruplexes (G4s) contribute to genome instability and tumor development in BRCA2-deficient cerebellar granule cell progenitors, leadi…
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Parkinsons disease impacts some 10 million people worldwide and current approaches to treating the condition almost exclusively focus on addressing symptoms – there is, as of yet, no cure. One Finnish biotech, however, is not focused on alleviating symptoms but on modifying the course of the disease itself. Their hope is to be able to stop and even…
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️Episode 120: Rare BMAL1 Variants Link the Circadian Clock to Neurodevelopment In this episode of PaperCast Base by Base, we explore how ultrarare heterozygous variants in BMAL1—a core circadian clock gene—are associated with a neurodevelopmental syndrome featuring developmental delay, autism spectrum disorder, and musculoskeletal findings. Study H…
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️ Episode 119: G‑Quadruplex Stabilization Triggers Pericentromeric DNA Breaks in B Cells In this episode of PaperCast Base by Base, we explore how stabilizing G‑quadruplex DNA structures with small molecules reshapes genome stability in B lymphocytes, revealing fragile hotspots in pericentromeric repeats and ribosomal DNA and exposing checkpoint-de…
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️ Episode 118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B In this episode of PaperCast Base by Base, we explore how cancer cells co-opt a primate-specific KRAB zinc finger protein, ZNF93, to fine-tune the mutagenic enzyme APOBEC3B and manage replication stress. Study Highlights: Using genome-wide KZ…
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️ Episode 117: Pol III–linked polyadenylation fuels SINE RNA accumulation during infection In this episode of PaperCast Base by Base, we explore how viral infection couples RNA polymerase III transcription with mRNA-like 3′ end processing to stabilize noncoding retrotransposon RNAs, revealing a conserved mechanism that boosts SINE RNA abundance dur…
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️ Episode 116: Cell Type–Specific Purifying Selection of Synonymous mtDNA Variation In this episode of PaperCast Base by Base, we explore how a seemingly “silent” synonymous mitochondrial DNA mutation can shape immune cell fitness, revealing cell type–specific selection in human T cells and a mechanistic link to mitochondrial translation dynamics. …
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Episode 115: A Transcriptomic, Proteomic, and Functional Genetic Atlas Dissects Neurofibromin Function in the Peripheral Nervous System In this episode of PaperCast Base by Base, we explore how an integrated multi‑omics and CRISPR interference atlas maps the function of the NF1 tumor suppressor neurofibromin in peripheral nerve cells and reveals co…
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️ Episode 114: One-hour extraction-free loop-mediated isothermal amplification HPV DNA assay for point-of-care testing in Maputo, Mozambique In this episode of PaperCast Base by Base, we explore the development of a rapid and affordable HPV DNA test designed for cervical cancer screening in low-resource settings. The study introduces a one-hour, ex…
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RNAi has changed the way that rare diseases are treated - is it about to do the same for more common conditions? Alnylam was the very first company to translate RNAi from Nobel Prize winning science into a commercially scalable platform. Founded in 2002, the company today has five different RNAi therapies on the market and a pipeline that continues…
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️ Episode 113: Joint, Multifaceted Genomic Analysis Enables Diagnosis of Ultra-Rare Monogenic Presentations In this episode of PaperCast Base by Base, we explore how the Undiagnosed Diseases Network (UDN) applied whole‑genome sequencing and new, well‑calibrated statistics to jointly analyze diverse, ultra‑rare monogenic cases across the consortium,…
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️ Episode 112: Local Genetic Sex Differences in Quantitative Traits In this episode of PaperCast Base by Base, we explore how genetic differences between males and females are distributed across the genome, moving beyond global averages of heritability and correlation. The study introduces a fine-scale approach using LAVA to examine local genetic s…
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️ Episode 111: A Multimodal Dataset for Precision Oncology in Head and Neck Cancer In this episode of PaperCast Base by Base, we explore the creation of HANCOCK, a comprehensive multimodal dataset designed to advance precision oncology in head and neck cancer. The study addresses the urgent need for large, publicly available datasets to improve bio…
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️ Episode 110: Whole-exome sequencing identifies new schizophrenia risk genes In this episode of PaperCast Base by Base, we explore a landmark whole-exome sequencing study that expands our understanding of the rare genetic variants contributing to schizophrenia risk. By combining newly sequenced samples with large-scale published datasets, research…
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️ Episode 109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality In this episode of PaperCast Base by Base, we explore how loss of the RNA editor ADAR1 becomes lethal to BRCA1/2‑mutant cancer cells through a tumor‑cell‑autonomous interferon response, outlining a biomarker‑guided path to ADAR1‑targeted therapy. Study Highlights: A focus…
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️ Episode 108: Epigenome Editing Reverses HBG Silencing In this episode of PaperCast Base by Base, we explore how targeted removal of CpG methylation at the HBG promoters causally reactivates fetal hemoglobin (HbF) without cutting DNA, revealing a precise path to treat β‑hemoglobinopathies. Study Highlights: A forward CRISPR screen in adult‑type er…
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