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Category:All HeadlinesWorld & GeopoliticsMarkets & EconomyTech & AIPoliticsSearch results for: "Pathogenic variants in th" (30 stories)

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Current age-based genetic testing in patients with cancer may miss the majority of inherited gene variants
Lead StoryMedical Xpressgeneral
3d ago

Current age-based genetic testing in patients with cancer may miss the majority of inherited gene variants

<a href="https://news.google.com/rss/articles/CBMihAFBVV95cUxOdGszNUZjSlY1WDd0R0FJM0ZEUHpkT3VHOHFubk8zSjFiNXpRVEJmakU3MlBMd3FmLVdDVXlwYks2enptNjczMFk5S2VBa2FpMTJabHVPekZkcUJ1QS1NZEhTZTFlTXAyM2Z1Z05fWDY2MnhKYXE2eXEwMVBjN3FhSHlIdUU?oc=5" target="_blank">Current age-based genetic testing in patients with cancer may miss the majority of inherited gene variants</a>  <font color="#6f6f6f">Medical Xpress</font>

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Search Results for "Pathogenic variants in th"

Updated every 3 minutes via FreeNewsApi, GNews, Currents API & Google News

29 stories displayed
New bioinformatics tools help identify pathogenic variants in the genome
Phys.orggeneral

New bioinformatics tools help identify pathogenic variants in the genome

<a href="https://news.google.com/rss/articles/CBMiigFBVV95cUxPRFItMVJQal9pSVhiR0ZOVVY0ZnBTQS1oTjRWaGFYZWZlT0ZBOHc0cjNONHh4ZnpZYnJnR3NzQUc5SHdVUTBwNEVUX3g2YVFReHR3YWZrdVhmaHhOSDFIbFh1YmJlRzV1d29NSGpaUTFvakM2dFVzRkVmSElQejZQUFpXVDM3bVB0WGc?oc=5" target="_blank">New bioinformatics tools help identify pathogenic variants in the genome</a>  <font color="#6f6f6f">Phys.org</font>

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Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
Naturegeneral

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBGb0dqcmh2aXJ2clJaLUw5Q3pfVU42OEZCbkZVY3NDN2J4M2lrY2J6OTZZdUFuS2FiXzRVZWpPeUR6ek1RNmVwMnpBZ3VpQUNiQ1V3b1JUb0tYZXFodF9v?oc=5" target="_blank">Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort</a>  <font color="#6f6f6f">Nature</font>

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Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma
Frontiersgeneral

Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma

<a href="https://news.google.com/rss/articles/CBMijgFBVV95cUxQcGpGczAxUlllYl96blFGOHJHUjA2d1l6VXpyR05Gekk2dXBVZE44Nmt5Z3gtbTFqNEtxbEN2Ym84bHBabmZUYXV1S3ItWWtKZ0RINk9ZYkZzUXp2aEpHX2ZXMnFpX21pelFUQ05wNHZ5NVQtXzR4VTlVTGtKVnk4QTF4aDgwM09ra2tzUk93?oc=5" target="_blank">Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma</a>  <font color="#6f6f6f">Frontiers</font>

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Long-Term Outcomes With Maintenance Rucaparib in Advanced Pancreatic Cancer With BRCA or PALB2 Pathogenic Variants
The ASCO Posttech

Long-Term Outcomes With Maintenance Rucaparib in Advanced Pancreatic Cancer With BRCA or PALB2 Pathogenic Variants

<a href="https://news.google.com/rss/articles/CBMi5AFBVV95cUxQczhSVExCZ3BPRTdkM0pzYUg4YlFlTUV5SFVzOEtDcjNfdUJsdms3YmsySHpKYlBONGVnMW95MlZheWxLWVBsWXpnZHY1VUZfbUZfd2xEaEtRWUVJc3c2dUh2Skl6NUFhY0FZSXhtRllISVZaWkJ1TFg2clBGVDJXcnZhVXVNSk4tc2JDam9sZ2hQWGoxZmpvWHdWQ2MtZUxCcl9ncGV2a2hqdUpPXzFlRlZPTllDV0ZxUDFnN3kzNHVzNkpkbGJHa1Q5dE1ZaVM5N1o0RnFUclBEV1QxamZqT1M1bnA?oc=5" target="_blank">Long-Term Outcomes With Maintenance Rucaparib in Advanced Pancreatic Cancer With BRCA or PALB2 Pathogenic Variants</a>  <font color="#6f6f6f">The ASCO Post</font>

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Pathogenic Variants in ATP1A3 | Neurology Genetics
Neurology® Journalsgeneral

Pathogenic Variants in ATP1A3 | Neurology Genetics

<a href="https://news.google.com/rss/articles/CBMiakFVX3lxTE9iQ0ZKX1hLcTBoSV9yTjJfanN1MEtUVjg0Z2p1cEJlNDQ0Zms3NTBEcFFwOEhCUjNQYzJNdldCclZtbmxTS2p0V280bjJnZmhReHQ4NGtYVy1XeVpWRjZhOXZ6bTZKYU9HVlE?oc=5" target="_blank">Pathogenic Variants in ATP1A3 | Neurology Genetics</a>  <font color="#6f6f6f">Neurology® Journals</font>

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A Case of Hemolytic Uremic Syndrome Due to a Pathogenic Variant in the DGKE Gene
Cureusgeneral

A Case of Hemolytic Uremic Syndrome Due to a Pathogenic Variant in the DGKE Gene

<a href="https://news.google.com/rss/articles/CBMiuwFBVV95cUxPZEhIdF9lRUJ5aEhXeWpxOE8ya1VaLWlUTkZTdGl3b0VyZ0VqSXdmcTdBWUgyYkVMOXZzcFRpMlUxZmJ4Q01yelNuMlNUX1BqamFpX25maGIxZjVvLTBwaDl5Q3RCSjVjdkpXN0dZUXA0eGpQVzhWX0ZEZkJSSVVrekxVVWVCa2xhNmRwS2Z1bHpkaTlLNXdyWHNxdUtMTXU1ekpOQk90QTlkWlcyUlN5S0Ztb2hUeGRCaUg0?oc=5" target="_blank">A Case of Hemolytic Uremic Syndrome Due to a Pathogenic Variant in the DGKE Gene</a>  <font color="#6f6f6f">Cureus</font>

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Two Harmful Variants Can Restore Protein Function
The Scientistworld

Two Harmful Variants Can Restore Protein Function

<a href="https://news.google.com/rss/articles/CBMijgFBVV95cUxPQnpkRmltOS1XQVNkMG5YN29tMlVXcy1ZMmlQOHh4dmhPeHBQaExCU0hEcl9wazRIOXlhdkgweUEyMGR6bDRQQXZKVnM5R2ZhUWRqTU53ZVk5d1F6a1lXaldlUWo4dzVIY3FRcUNoak9EaF9FMUxXcGRuMGhIMGVFbHpTMUZUcXVrbmpocTRn?oc=5" target="_blank">Two Harmful Variants Can Restore Protein Function</a>  <font color="#6f6f6f">The Scientist</font>

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Five Percent of U.S. Population Carries Pathogenic Variants Associated with Cancer Risk
Cleveland Clinicgeneral

Five Percent of U.S. Population Carries Pathogenic Variants Associated with Cancer Risk

<a href="https://news.google.com/rss/articles/CBMiwAFBVV95cUxQWlNUQ0VRc2M2ay1EZUxiZUIycWItejdVSk1JS042Sm83dGdWNVNoS2xLU2d6YVZ6bHBOQWg4M21INUtrdWI4aEx2eHlhU1o5ckprZXp5N0tOd1JyUVBHUUdMMGdXWmxqM0RpcnNqZk1kOGpDdVlhYklPT1U5RzRDR29lUk1qalVJU0lJdVRwV2FENFJ5eWtKNHo0d21iMTlfXzV1QUpnRUcyWEE4ZjJ5QzJwTXNtdHFxbWlENkZ0bGQ?oc=5" target="_blank">Five Percent of U.S. Population Carries Pathogenic Variants Associated with Cancer Risk</a>  <font color="#6f6f6f">Cleveland Clinic</font>

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BRCA2 Pathogenic Variants May Identify a Higher-Risk Group in First-Line ER+ Metastatic Breast Cancer
Oncodailygeneral

BRCA2 Pathogenic Variants May Identify a Higher-Risk Group in First-Line ER+ Metastatic Breast Cancer

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBoNkdwekY2NGNmdFBSRlcwT2UzZ2VCSHplNVBjSE5aSGwydWpkcWljS1BBbDhtbkhMZmxRa2lwS24wRzMwR2UwcVYzeWRSYjMxX3lsdDRvNU9HTWtiUk53?oc=5" target="_blank">BRCA2 Pathogenic Variants May Identify a Higher-Risk Group in First-Line ER+ Metastatic Breast Cancer</a>  <font color="#6f6f6f">Oncodaily</font>

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Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan
Natureworld

Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9fYlctTXBBZzhTSUgzSDRrZkk3SDNjVkV0UUVqcEdUR1d0US1Ic3RkVnQya3lvaGZ4WVhYODlfWUR5NUVXX1cxMzE4NTdMSGcya3dxS19QSnJfT0R4eDZz?oc=5" target="_blank">Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan</a>  <font color="#6f6f6f">Nature</font>

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Pathogenic MECP2 Variants Reveal Broader Neurological Spectrum Beyond Rett Syndrome
Bioengineer.orggeneral

Pathogenic MECP2 Variants Reveal Broader Neurological Spectrum Beyond Rett Syndrome

<a href="https://news.google.com/rss/articles/CBMirAFBVV95cUxNQ2l4bGtOOWVZVkNtcHJNMXY2QlphUDk1NGRHVFBsT1VZQTAtalRzM2JhSkZpZVpRLVJTdlBkQTA5T3djRmxfbFpOeEhERk8zLUo4WTd1bmpfUnczOW1oR2JmY1ZCZFg1SVpXZnlGLUpOZW5nTTZ0ZFlvTEtPNzVBWG9XSFhRMnQxanlpRUpMTmxtZXVUdzh0aTdvSlQ1WnJaSmo5TjBIWU90LUlK?oc=5" target="_blank">Pathogenic MECP2 Variants Reveal Broader Neurological Spectrum Beyond Rett Syndrome</a>  <font color="#6f6f6f">Bioengineer.org</font>

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Survival Outcomes With or Without Bilateral Risk-Reducing Mastectomy in BRCA1/BRCA2 Pathogenic Variant Carriers
The ASCO Postgeneral

Survival Outcomes With or Without Bilateral Risk-Reducing Mastectomy in BRCA1/BRCA2 Pathogenic Variant Carriers

<a href="https://news.google.com/rss/articles/CBMi5AFBVV95cUxQX2NBUk4yOGZ3R2ZMbTBSX1RQWlp1Q3VsVXdSUXYtbExTUktDNmotbnB3bThtMkFZbkY1WDhGa0cxSV9mMEtJQkE2YUo0N3h4MUVBTjgyTTlPTTJab1NOZ05mMHlfcDM5ZEhWcWZyd05OVzZNb2M5R212Nmdoc2NxY1VNb25Fb2tQRzFVZUliOGhoRUxnclpWTl9uM0Z2VVExNG5Ob21FczJ2WUdWM09jSGpRRTk0bVh1bVY4dWdTQnJRWG9WS05SNDJiLUxWUi0wVlF6Mlk0dVVZZmV4V3M4dzJKVUI?oc=5" target="_blank">Survival Outcomes With or Without Bilateral Risk-Reducing Mastectomy in BRCA1/BRCA2 Pathogenic Variant Carriers</a>  <font color="#6f6f6f">The ASCO Post</font>

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Search for Additional Pathogenic Variants to Explain Variation in PMP22 -Related Neuropathies
Neurology® Journalstech

Search for Additional Pathogenic Variants to Explain Variation in PMP22 -Related Neuropathies

<a href="https://news.google.com/rss/articles/CBMiakFVX3lxTE44eUg0ZFVRM2RIZGV3V2t6N0pwVEY2WnJUd1dHVUp4cHNHdlNEUllNeE9HdmlGTzRCMnhEdDlhZlJsTDZqS2toMndKeXBuVm5fenMtZEY2VnlBTEdFckVYRV9PQjk1aF9raXc?oc=5" target="_blank">Search for Additional Pathogenic Variants to Explain Variation in PMP22 -Related Neuropathies</a>  <font color="#6f6f6f">Neurology® Journals</font>

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Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia
Frontiersgeneral

Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia

<a href="https://news.google.com/rss/articles/CBMijwFBVV95cUxORzZ4Q1Z3SzdlQTRVSVhnRXhyMlRZWk5mQVdhZG5lRHpNVjZlUmlIMDhGZ2VHanhOc2g5aW5XVWlxdlVTcUZDM01henpsS3MycV9naGxYelJXVlhGbjZ3UjlPT2lKQThLdFhPVTNhM25tdzNpMks1cWI3bUFBbFNHbHpBVjhWX21xSFNRdWJJVQ?oc=5" target="_blank">Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia</a>  <font color="#6f6f6f">Frontiers</font>

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Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report
Cureusgeneral

Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report

<a href="https://news.google.com/rss/articles/CBMijAJBVV95cUxNOTdMMUJXWDZmSE9xQzRXV3FZVzktNUlmZHllZkg3STV0SDhVbHZrRXBSZUhyNUZna3pEelhwRUJfN1pvWE4teEdlUjBMMUtJUURSZHkxS2FHSVhyMUJfRFZOYzAtcS1nZUQxcWhnaWthUlpmWVJRRjNLcUl0NzMwN1Z5N00tWUpmZlh0TWxtU2FPdlNQRk9LdnIxQUhkcEJHVFVENkM1cGRlWTNyanFZOTZ0VmE1dmdTdVpYbmlieFdnS2NWb1Y1RHRXajlBX3BzbjlDYnV0YXE3bjVZdFlXcmN5M0tiZkxqRDQwRkFLanEzWUlnTnFzMkZEeUMybmRUckJucUYxOXdNZU9H?oc=5" target="_blank">Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report</a>  <font color="#6f6f6f">Cureus</font>

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Pathogenic germline variations and cancer risks in pediatric patients referred for genetic testing
Naturegeneral

Pathogenic germline variations and cancer risks in pediatric patients referred for genetic testing

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE8ybUd3WFExdTVNRDdWS2k1VURpUVZxOUNJZW1xR2pqa2pLall4eXdKbUNWTDQwNUo0TkN4T0t1WXk3emFXbi1Bai1Ed05nR21oMEphUjN4cDVnWEJIMWIw?oc=5" target="_blank">Pathogenic germline variations and cancer risks in pediatric patients referred for genetic testing</a>  <font color="#6f6f6f">Nature</font>

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ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease
Naturegeneral

ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE85ZTBiYWkxbUhJcUw4QjVPemtCRjR5V0NhQTdUTXJuOGZrdnpjZ2Z2QmlWV1YtaDQxVUs4WWdqMlZqcFg3M3F5Vkd3OXpJbk9aMzMxcUtiWU45Tk1nRDJ3?oc=5" target="_blank">ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease</a>  <font color="#6f6f6f">Nature</font>

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Expanding the utility of variant effect predictions with phenotype-specific models
Naturegeneral

Expanding the utility of variant effect predictions with phenotype-specific models

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBjblVna0hyaTJ0Q3piN1FQX0ljd3hscTdPVGEwUXN2RDhwajZCVWE0VmVCT0p3c1hBWmhpNVVoaVQ4T0l0YVczYlhFM3ExcXBPcDRTMXZ6SS1uZXg2cDdr?oc=5" target="_blank">Expanding the utility of variant effect predictions with phenotype-specific models</a>  <font color="#6f6f6f">Nature</font>

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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Naturegeneral

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE12RHAyZ1pHekh5MGh0eVRxdmJqbU1mZENLLXVZMkNWQVJFWGZkeGtuV2hJTy1QcEVocWpzN0szZk1sak1HSGJJdzRibEJJMFh5c05yaFRhQnpmUDFVcWJJ?oc=5" target="_blank">Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database</a>  <font color="#6f6f6f">Nature</font>

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Approaches for identifying pathogenic variants causing rare diseases
Naturegeneral

Approaches for identifying pathogenic variants causing rare diseases

<a href="https://news.google.com/rss/articles/CBMiWEFVX3lxTE83em5QMENHazNnYmNGVGJhMTlxdkFyWWdOdzYtOVFCU1pLSVFNbjhRYmRHZHpSRjM2bTUzOVd0dEtwb1ZKdmFEelZvOUZLcm9Fa0lGVHc2Nkw?oc=5" target="_blank">Approaches for identifying pathogenic variants causing rare diseases</a>  <font color="#6f6f6f">Nature</font>

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Characterizing the pathogenicity of genetic variants: the consequences of context
Naturegeneral

Characterizing the pathogenicity of genetic variants: the consequences of context

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9jR3RXckhFcUloNzlLclVyRGZyc3FWb3UxNzRjekU3RjM2R29xalZHUkI1bzR2X0ZLRGt5U3o1U0dJVklkam1zRWtrQ1ZjMVoyV20weWdRNllMQzFQSDFR?oc=5" target="_blank">Characterizing the pathogenicity of genetic variants: the consequences of context</a>  <font color="#6f6f6f">Nature</font>

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Pathogenic MAX Variant in Bilateral Adrenal Paragangliomas: The Dilemma of Cortical-Sparing Surgery
Cureusgeneral

Pathogenic MAX Variant in Bilateral Adrenal Paragangliomas: The Dilemma of Cortical-Sparing Surgery

<a href="https://news.google.com/rss/articles/CBMi0wFBVV95cUxPWS1VVjZMclJqdXNqX05ZQXpGSXpmUE9LQ2pnQ3V4NXQ2Ymh0NjRydmtYU2NWSjdYVzJ3UENPM2hVdDNrRTMwZEhKb3pSU1ZwWnZGOVV2TWdETWxhaEI1LW1UX1NKWWFZVzk2ZUVULU9IS3hpRzlqbV90ZUxGbGxxNFpzTGV0bFpOSnNIRFM1U18xQlQyTlZZbW1XeHRYNWJUdEh5anYya2ZTU0xsYWhCSGRwempCZUxuNFhVeFJkQ0I1YUV1RU9WWlBJQ2dsekxvcmVR?oc=5" target="_blank">Pathogenic MAX Variant in Bilateral Adrenal Paragangliomas: The Dilemma of Cortical-Sparing Surgery</a>  <font color="#6f6f6f">Cureus</font>

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Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
Naturegeneral

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE0ycjdPSzRVdTdmTFBtNmowZEI2bnczMXdVR0pXaGM1NUFLOXI3bVpSaEN6QW1Mcnh5OHhPWm1LbzJoWWg2RVR0QVM1dFVlLTd0MDF1c0d1djhRcWhxODdZ?oc=5" target="_blank">Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing</a>  <font color="#6f6f6f">Nature</font>

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AI Tool Identifies Disease-Causing Genetic Mutations and Predicts Disease Type
Genetic Engineering and Biotechnology Newstech

AI Tool Identifies Disease-Causing Genetic Mutations and Predicts Disease Type

<a href="https://news.google.com/rss/articles/CBMi0wFBVV95cUxPQnRIaWpyTm41UGUweFpNV2xobEhKUUQ5NzlMTnhNb01IR0F4Ri13MU1CckpBOWczTDJxVmZIOU9LdUlicm42a0luVEVDWTFLVHd6d2tpcFFYUlg1dkZ0S3pMZEI1REZjZmJYQWdoTWdEU3l5RDVYVzVmbzRfRFJob1FTZjZkSGIxejdkUDZwSHk3YjA1azFndVpELVptMzBWbUstR2YzRDF2SmdoazRhTGljNERrU01Jem4wYnJjdGRRS19NREZBUHFBdUhNbmxJbVE4?oc=5" target="_blank">AI Tool Identifies Disease-Causing Genetic Mutations and Predicts Disease Type</a>  <font color="#6f6f6f">Genetic Engineering and Biotechnology News</font>

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New Artificial Intelligence Model Could Speed Rare Disease Diagnosis
Harvard Medical Schoolgeneral

New Artificial Intelligence Model Could Speed Rare Disease Diagnosis

<a href="https://news.google.com/rss/articles/CBMingFBVV95cUxNTTJNZVpHVG83blFoUmFzTU0tQkxHcDZiRUVVNG5lOXAyRFJzYjFVSTV2dXYwaDBOYk1TdUZuSnlERkVEQ1hVY2hMSURCQUlfeURDTTQyRHF1TmlYVm5waUt4VjhZRjhVYV9aLWZMWHBRU2tJVGlJU2VZbFl5RFJyUm1sS1Z6aUJKV3ZHVVpFSlppUDk3a19ERkNVUzRFUQ?oc=5" target="_blank">New Artificial Intelligence Model Could Speed Rare Disease Diagnosis</a>  <font color="#6f6f6f">Harvard Medical School</font>

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Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions
Naturegeneral

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE82VDZncG4xMjhXYTdUX3V2SWxObVpWSjQ5VnFfcE5pdFNTY1BzNzFNSUJ5eUhmNWpkMjhQUnlmQmxYalRROWRtUFIyTW5pV3FiY3VIUGx1RGliMW0xcDh3?oc=5" target="_blank">Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions</a>  <font color="#6f6f6f">Nature</font>

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The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
Naturegeneral

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5BZjkxcEpGR0hXeXJyZGp0eHhYTkoweVY0UVNzMkJBWDJDWWtRZEx4UDNPdFZHQm9tWUp0bk1NOVFpdmJjWGFlVjJ6MjJ1bEtDN2lUdFdrOEJTYW0yVWx3?oc=5" target="_blank">The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities</a>  <font color="#6f6f6f">Nature</font>

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Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome | European Journal of Human Genetics
Natureworld

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome | European Journal of Human Genetics

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE4tOXVqUVBHZzRFSF9PQXZVaENtSlNLbS14OTNONnJQY2NCNXhHYm5DWWNRWHRqVkp6MFdWYnRETzdiZzl0dURaMjZSNW9YemVBV1BacTgtU24tZThsV1Bz?oc=5" target="_blank">Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome | European Journal of Human Genetics</a>  <font color="#6f6f6f">Nature</font>

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Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese
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Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE40dWduaEpycVZHRTRSZ3NVY2p1ZHRYX3g2MmdzcWI5TFhJaEE0Q3UwVzhlQk96RkZzNDJuX1hCamxPYnR0dERRaE54VmJtVVlyLXkyVGd3dVVHcjZpNFEw?oc=5" target="_blank">Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese</a>  <font color="#6f6f6f">Nature</font>

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