Genetics-related News Feeds

Identification of ALS Associated Genes Using Whole Genome Sequencing   ( study page | release notes) ​

Adult Eosinophilic Esophagitis Registry Atlas   ( study page | release notes) ​

Response and Resistance to ER-Directed Therapy in Metastatic Breast Cancer   ( study page | release notes) ​

ChiLDReN/BA: Genetic Studies of Biliary Atresia in the Childhood Liver Disease Research Network   ( study page | release notes) ​

Cellular Heterogeneity in Early Human Development at Stage CS16   ( study page | release notes) ​

A Prospective Study of Lifestyle, the Gut Microbiome, and Diverticulitis   ( study page | release notes) ​

Spatial Transcriptomics Reveals Discrete Tumor Microenvironments and Autocrine Loops Within Ovarian Cancer Subclones   ( study page | release notes) ​

Copy-number variations are a type of DNA variants that can lead to genetic disease and cancer. Because of important technical limitations, they are usually difficult to identify. We have created a software, OFF-PEAK, which makes use of data that are discarded by conventional procedures to efficiently detect these particular variants.

SEPHS1 is in the selenocysteine biosynthetic pathway. We report nine individuals from eight families with developmental delay, growth and feeding problems, hypotonia, and dysmorphic features, all with heterozygous missense variants in SEPHS1. Our findings provide insight into the molecular pathogenesis of this neurodevelopmental disorder.

Integrating Genomic and Transcriptomic Data to Identify Breast Cancer Susceptibility Genes   ( study page | release notes) ​

Developing Biomarkers Incorporating High Throughput RNA, DNA, Small RNA Sequencing and Protein Expression in Inflammatory Bowel Disease Using Formalin-Fixed, Paraffin-Embedded (FFPE) Tissue Samples   ( study page | release notes) ​

Serrated Colorectal Cancer: An Emerging Disease Subtype   ( study page | release notes) ​

MSK SPECTRUM - SPatiotemporal Evolution of Cancer Traced Using Multimodalities   ( study page | release notes) ​

Integration of Clinical and Molecular Biomarkers for Melanoma Survival (Berwick)   ( study page | release notes) ​

NIH RECOVER: A Multi-Site Observational Study of Post-Acute Sequelae of SARS-CoV-2 Infection in Adults   ( study page | release notes) ​

We present a method for efficiently identifying clusters of identical-by-descent haplotypes in biobank-scale sequence data, and we demonstrate how these clusters can be used to identify alleles that have been changed by gene conversion. We apply our methods to UK Biobank sequence data.

Explore an in-depth investigation of the Eastern Highlands of Papua New Guinea. Analyses attempt to disentangle the complex relationships between genetics, linguistics, and the clan system of political organization. Additionally, an analysis investigating the impact of the kuru epidemic on migration flows in the region is undertaken.

(The American Journal of Human Genetics 111, 96–118, January 4, 2024)

​ Using NGS to Sequence Whole Genomes to Identify Genes Underlying ALS   ( study page | release notes)

​ Identification of Novel Therapeutic Targets for Calcific Aortic Valve Stenosis Using Integrative Genomics   ( study page | release notes)