Cutting corners results in rare genetic diseases being undiagnosed, say scientists

byUniversity of ManchesterCommunity of practice-driven development. Credit:Nature Genetics(2024). DOI: 10.1038/s41588-024-01938-wInaccurate naming of genetic diseases is resulting in

Updated on: October 09,2024 0

Cutting corners results in rare genetic diseases being undiagnosed, say scientists

byUniversity of ManchesterCommunity of practice-driven development. Credit:Nature Genetics(2024). DOI: 10.1038/s41588-024-01938-wInaccurate naming of genetic diseases is resulting in

Updated on:October 09,2024 0

Study uncovers the role of polygenic risk scores in hypertension management

by Anna Jones,University of Alabama at BirminghamCredit: Pavel Danilyuk from PexelsPhysician-scientists from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine have ne

Updated on: October 09,2024 0

Study uncovers the role of polygenic risk scores in hypertension management

by Anna Jones,University of Alabama at BirminghamCredit: Pavel Danilyuk from PexelsPhysician-scientists from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine have ne

Updated on:October 09,2024 0

Study deciphers pathological mechanisms of spermatogenic impairment in cryptorchidism

byChinese Academy of SciencesSpermatogenic failure in cryptorchidism is due to abnormal spermatogonia, activated mast cells, and impaired testicular niche. Credit: Wang Xiaoyan and Zhuang ZiyanC

Updated on: September 14,2024 0

Study deciphers pathological mechanisms of spermatogenic impairment in cryptorchidism

byChinese Academy of SciencesSpermatogenic failure in cryptorchidism is due to abnormal spermatogonia, activated mast cells, and impaired testicular niche. Credit: Wang Xiaoyan and Zhuang ZiyanC

Updated on:September 14,2024 0

AI promises to ramp up PCR tests for faster DNA diagnostics and forensics

byFlinders UniversityDiagrammatic explanation of the firefly algorithm used to suggest new PCR programs in this study. Credit:Genes(2024). DOI: 10.3390/genes15091199Promising new inr

Updated on: October 09,2024 0

AI promises to ramp up PCR tests for faster DNA diagnostics and forensics

byFlinders UniversityDiagrammatic explanation of the firefly algorithm used to suggest new PCR programs in this study. Credit:Genes(2024). DOI: 10.3390/genes15091199Promising new inr

Updated on:October 09,2024 0

Bioinformatics techniques uncover hidden prevalence of repeat expansion disorders

byQueen Mary, University of LondonCredit: Pixabay/CC0 Public DomainResearch led by scientists at Queen Mary University of London is signaling a new era for genetic sequencing and testing. In the

Updated on: October 09,2024 0

Bioinformatics techniques uncover hidden prevalence of repeat expansion disorders

byQueen Mary, University of LondonCredit: Pixabay/CC0 Public DomainResearch led by scientists at Queen Mary University of London is signaling a new era for genetic sequencing and testing. In the

Updated on:October 09,2024 0

Study unveils new genetic syndrome linking brain development and neurodegeneration

by Genomic PressStructural effects of a single frameshift homozygous nucleotide deletion in the SPAG9/JIP4 gene. Representation of the three-dimensional model in tapes. (A) Region of the SPAG9wt prote

Updated on: October 09,2024 0

Study unveils new genetic syndrome linking brain development and neurodegeneration

by Genomic PressStructural effects of a single frameshift homozygous nucleotide deletion in the SPAG9/JIP4 gene. Representation of the three-dimensional model in tapes. (A) Region of the SPAG9wt prote

Updated on:October 09,2024 0

Large cohort study builds pregnancy health atlas for phenotype-omics research in China

by BGI GenomicsGeographical distribution of the cohort. Credit: BGI GenomicsA new pregnancy health cohort study involving over 20,000 families has identified common complications, high-risk groups, an

Updated on: November 22,2024 0

Large cohort study builds pregnancy health atlas for phenotype-omics research in China

by BGI GenomicsGeographical distribution of the cohort. Credit: BGI GenomicsA new pregnancy health cohort study involving over 20,000 families has identified common complications, high-risk groups, an

Updated on:November 22,2024 0

Plastic chemical phthalate causes DNA breakage and chromosome defects in sex cells, new study finds

byPublic Library of ScienceBBP exposure causes chromosome organization defects in the female germline. Carnoy's fixed and DAPI-stained images of gonads at the pachytene stage following expos

Updated on: October 31,2024 0

Plastic chemical phthalate causes DNA breakage and chromosome defects in sex cells, new study finds

byPublic Library of ScienceBBP exposure causes chromosome organization defects in the female germline. Carnoy's fixed and DAPI-stained images of gonads at the pachytene stage following expos

Updated on:October 31,2024 0

Scientists outline key challenges and promising avenues in obesity genetics

byPennington Biomedical Research CenterCredit: Pixabay/CC0 Public DomainResearch on the genetics of obesity dates to the early 1920s, with many of the initial findings indicating the complexity

Updated on: August 08,2024 0

Scientists outline key challenges and promising avenues in obesity genetics

byPennington Biomedical Research CenterCredit: Pixabay/CC0 Public DomainResearch on the genetics of obesity dates to the early 1920s, with many of the initial findings indicating the complexity

Updated on:August 08,2024 0

Largest-ever exome study offers blueprint for biomedical breakthroughs

byMayo ClinicCredit: Artem Podrez from PexelsMayo Clinic's Center for Individualized Medicine has achieved a significant milestone with its Tapestry study, generating the clinic's larges

Updated on: December 11,2024 0

Largest-ever exome study offers blueprint for biomedical breakthroughs

byMayo ClinicCredit: Artem Podrez from PexelsMayo Clinic's Center for Individualized Medicine has achieved a significant milestone with its Tapestry study, generating the clinic's larges

Updated on:December 11,2024 0

Genetic testing moving into the mainstream, study finds

byUTSouthwestern Medical CenterCredit: CC0 Public DomainGenetic testing, which has expanded in recent years with advances in technology and the development of consumer products, is on a pa

Updated on: January 08,2025 0

Genetic testing moving into the mainstream, study finds

byUTSouthwestern Medical CenterCredit: CC0 Public DomainGenetic testing, which has expanded in recent years with advances in technology and the development of consumer products, is on a pa

Updated on:January 08,2025 0

Research team reveals how TREM2 genetic mutation affects late-onset Alzheimer's

byUniversity of California, IrvineMERFISH spatial transcriptomics enables spatial variation analysis of the transcriptome at the cell type level. A Dataset overview consisting of 15 samples, fro

Updated on: August 08,2024 0

Research team reveals how TREM2 genetic mutation affects late-onset Alzheimer's

byUniversity of California, IrvineMERFISH spatial transcriptomics enables spatial variation analysis of the transcriptome at the cell type level. A Dataset overview consisting of 15 samples, fro

Updated on:August 08,2024 0