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Extinct warbler’s genome sequenced from museum specimens

Researchers confirm Bachman's warbler as a distinct species by sequencing its genome from museum specimens. The study reveals a new candidate gene involved in feather pigmentation in the group. Comparing the genomes of the extinct warbler with living sister species highlights the crucial role of museum collections in science.

SourcePenn State·JournalCurrent Biology·TypeExperimental study·DateJun 23, 2023

Single-cell atlas of the whole human lung

The Human Lung Cell Atlas provides insights into lung biology by combining data from nearly 40 studies, revealing rare cell types and cellular differences between healthy people. The study found common cell states between lung fibrosis, cancer, and COVID-19, offering new ways of understanding lung disease.

SourceWellcome Trust Sanger Institute·JournalNature Medicine·TypeMeta-analysis·DateJun 8, 2023

UC Santa Cruz to lead data collection center for major federal project on genetic underpinnings of neurological conditions

The UC Santa Cruz Genomics Institute will run the Data Coordination Center for the Scalable and Systematic Neurobiology of Psychiatric and Neurodevelopmental Disorder Risk Genes (SSPsyGene) Consortium. The team will coordinate an initial selection of 250 relevant genes from nearly 30,000 protein coding genes in the human genome.

The ACMG publishes statement on clinical, technical and environmental biases influencing equitable access to clinical genetics/genomics testing

The American College of Medical Genetics and Genomics (ACMG) has published a statement addressing factors that contribute to bias in clinical genetic testing. The statement highlights three main areas: environmental, clinical, and technical biases, which affect health equity for individuals from historically marginalized populations.

SourceAmerican College of Medical Genetics and Genomics·JournalGenetics in Medicine·TypeLiterature review·DateApr 14, 2023

How to climate-proof the Ethiopian breadbasket? Combine genomics and farmer knowledge

Researchers teamed with Ethiopian farmers to develop new wheat varieties using genomic analysis. Farmers' knowledge played a crucial role in predicting crop yields and selecting optimal traits. The project aims to preserve agrobiodiversity and promote cultural heritage.

How fruit flies feast for pleasure as well as necessity

Researchers discovered that fruit flies have distinct hunger drives, one driven by need and the other by pleasure, which arise from unique neural mechanisms. The study found that hungry flies increase feeding event duration and total events, and identified specific brain regions activated by pleasurable food environments.

SourceeLife·JournaleLife·DateMar 7, 2023

NIH researchers discover new gene involved in a toxic competition among yeast

Researchers at NIH's National Human Genome Research Institute identified a gene, KTD1, that provides resistance to the K28 toxin in yeast. This discovery sheds light on the molecular mechanisms underlying toxin resistance and has implications for understanding human toxin resistance.

SourceNIH/National Human Genome Research Institute·JournalProceedings of the National Academy of Sciences·TypeExperimental study·DateFeb 17, 2023

Researchers produce first-ever toolkit for RNA sequencing analysis using a ‘pantranscriptome’

A new toolkit enables researchers to map individual RNA data to a more diverse 'pantranscriptome', addressing reference bias and increasing the accuracy of gene expression mapping. This approach builds on pangenomics, allowing for the comparison of an individual's genome to genetically diverse cohorts of reference sequences.

SourceUniversity of California - Santa Cruz·JournalNature Methods·DateJan 16, 2023

CHOP and NJIT researchers develop new tool for studying multiple characteristics of a single cell

Scientists from CHOP and NJIT created a software tool to analyze information from a single cell, revealing relationships between different cellular characteristics. The 'single-cell multimodal deep clustering' method can help identify the causes of genetic-based diseases by integrating data on gene expression, mRNA, proteins, and organ...

SourceChildren's Hospital of Philadelphia·JournalNature Communications·TypeData/statistical analysis·DateDec 21, 2022

Incoherent use of ethnoracial categories in biomedical literature on COVID-19

Researchers analyzed 119 articles from the Lit Covid database to understand how researchers use ethnoracial categories in biomedical studies. The study found that many articles used terms 'race' or 'ethnicity' without clear definitions, leading to confusion and misinterpretation of research findings.

SourceInterdisciplinary Centre for Ethics, Jagiellonian University in Kraków·JournalMedicine Health Care and Philosophy·TypeSystematic review·DateDec 8, 2022

CHOP researchers identify potential genetic variants linked to increased cancer risk in children with birth defects

Researchers from Children's Hospital of Philadelphia identified several genetic variants associated with increased cancer risk in children with non-chromosomal birth defects. The study found that these variants were more commonly found in genes related to birth defects and cancer, suggesting a potential basis for early detection.

SourceChildren's Hospital of Philadelphia·JournalBiomarker Research·TypeData/statistical analysis·DateNov 30, 2022

Long-standing genomic mystery about the origins of introns explained in new study

A new study led by UCSC scientists suggests that introners are the source of most introns across species, providing a plausible explanation for their vast majority. The researchers found evidence of introners in 5.2% of surveyed eukaryotic species and suggest they may be a fundamental mechanism driving genomic complexity.

SourceUniversity of California - Santa Cruz·JournalProceedings of the National Academy of Sciences·DateNov 28, 2022

Story tips: Genetic markers for autism, hiding in plain sight; Recyclable composites help drive net-zero goal; Evaluating buildings in real time; Nanoreactor grows hydrogen-storage crystals

Researchers at Oak Ridge National Laboratory have discovered genetic markers for autism, developed recyclable composites to drive the net-zero goal, and created a tool for real-time building evaluation. Additionally, they have made significant progress in growing hydrogen-storage crystals using a novel nano-reactor material.

SourceDOE/Oak Ridge National Laboratory·JournalNature Communications·DateNov 17, 2022

Advanced genomic approaches hold promise for marine conservation

Genetic and genomic technologies can protect marine life by identifying illegally harvested seafood products and monitoring disease outbreaks. Assisted evolution and synthetic biology could also benefit ocean ecosystems by introducing beneficial species or manufacturing products in the lab.

SourcePLOS·JournalPLOS Biology·TypeCommentary/editorial·DateOct 17, 2022

Chromosome-scale genome of a gentle giant

Researchers have completed and released a chromosome-scale genome sequence of the Aldabra giant tortoise, providing a much-needed genetic resource for rescue efforts. The data will aid in breeding efforts, comparative studies with other tortoise species, and understanding the species' remarkable size.

SourceGigaScience·JournalGigaScience·TypeExperimental study·DateOct 11, 2022

Improvements for Man and Machine in Scientific Publishing

The use of Frictionless Data enhances both machine readability and human engagement with scientific outputs, turning articles into dynamic entities. Interactive figures enable readers to directly interact with data points, making the publication process more efficient and reproducible.

SourceGigaScience·JournalGigabyte·TypeComputational simulation/modeling·DateOct 5, 2022

Genomics study identifies unique set of proteins that restores hearing in zebrafish

Researchers at NIH/National Human Genome Research Institute discovered a network of proteins necessary for restoring hearing in zebrafish through cell regeneration. The study identifies two families of transcription factors that work together to activate hair cell regeneration, offering potential insights into treating human hearing loss.

AMP recommends minimum set of pharmacogenetic alleles to guide design, development, and validation of clinical TPMT and NUDT15 genotyping assays

The Association for Molecular Pathology has published consensus recommendations for clinical TPMT and NUDT15 genotyping assays, promoting standardization across laboratories. The report identifies a minimum set of alleles to include in clinical tests, enabling healthcare professionals to provide high-quality patient care.

SourceAssociation for Molecular Pathology·JournalJournal of Molecular Diagnostics·DateAug 25, 2022