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monogenic disease

PreventionGenetics Nabs FDA Approval for Obesity Drug Companion Diagnostic

The test detects variants in the POMC, PCSK1, and LEPR genes to identify individuals eligible for treatment with Rhythm Pharmaceuticals' recently approved Imcivree.

Preimplantation Genetic Testing Could be Informed by Whole-Genome Reconstruction, Study Shows

Researchers demonstrated the potential for reconstructing variant patterns across the genomes of sibling embryos, using the data to estimate polygenic and monogenic disease risk.

Sequencing of Newborns Does Not Create Negative Psychosocial Effect on Families, Study Finds

The researchers also found that there was no lasting psychosocial harm among families who received a monogenic disease risk finding for their infant.

GenCC Database Harmonizes Gene-Disease Relationships for Researchers
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The Gene Curation Coalition, led by the Broad Institute, is serving as a clearinghouse of sorts for curated datasets on Mendelian disorders.

International Commission Deems Germline Genome Editing Not Yet Safe in Human Embryos
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The panel also said that if any nation does decide to allow germline genome editing, its use should be limi

Aug 26, 2020

Sequencing Could Augment Other Newborn Screening Approaches, NC NEXUS Study Finds

May 28, 2020

Mendelian Disease Diagnosis Gets Boost From Automated Software That Scans Full-Text Articles
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May 7, 2020

Primary Immunodeficiency Study Highlights Monogenic, Common Variant Disease Contributors

Jun 27, 2019

MedSeq Team Reports Genome Analysis, Reanalysis Results for 100 Participants

Sep 26, 2018

GWAS Reveals Common, Polygenic Contributors to Neurodevelopmental Disorders

Apr 12, 2018

ACMG Presenter Touts Literature Mining Tool for Ranking Monogenic Disease Candidates

Oct 2, 2017

Clinical Exomes Contribute to Monogenic Disease Diagnoses in Infant ICU, Study Finds

Jul 31, 2017

Genetic Testing Evaluated For Diagnosing Epilepsy, Monogenic Conditions

Jul 28, 2017

Panel Sequencing Leads to Pathogenic Mutations in Autoinflammatory Cases

Jun 19, 2017

New Monogenic Form of Severe Atopic Dermatitis Described

Jun 16, 2017

Combining PGD and PGS to Select Embryos Increases Pregnancy Rate But Results in Fewer Transfers
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Mar 24, 2017

ACMG Talk Highlights Importance of Detecting Rare, Monogenic Forms of Diabetes

Oct 30, 2013

Genome Québec, Sainte-Justine Hospital Evaluating Tech for New Clinical Pediatric Sequencing Center
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Jul 18, 2012

Children's Mercy Using HiSeq2500 'STAT-Seq' Method to Diagnose Monogenic Disorders in the NICU
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Breaking News
The Scan

Suicidal Ideation-Linked Loci Identified Using Million Veteran Program Data

Researchers in PLOS Genetics identify risk variants within and across ancestry groups with a genome-wide association study involving veterans with or without a history of suicidal ideation.

Algorithm Teases Out Genetic Ancestry in Individuals at Biobank Scale

Researchers develop an algorithm known as Rye to tease apart ancestry fractions in admixed individuals at a biobank-scale, applying it to 488,221 UK Biobank participants in Nucleic Acids Research.

Multi-Ancestry Analysis Highlights Comparable Common Variants at Complex Trait-Linked Loci

Researchers in Nature Genetics examine common variants implicated in more than three dozen conditions, estimating genetic effect similarities across ancestry tracts in admixed individuals.

Sick Newborns Selected for WGS With Automated Pipeline

Researchers successfully prioritized infants with potential Mendelian conditions for whole-genome sequencing or rapid whole-genome sequencing, as they report in Genome Medicine.