Bioinformatics

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

September 6, 2025

Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…

Gilgo Beach serial killer case a key test in use of advanced DNA techniques in criminal trials | National News

August 31, 2025

RIVERHEAD, N.Y. (AP) — When Maureen Brainard-Barnes’ skeletal remains were found hidden in the roadside scrub near Long…

SScience

Central Bearded Dragons (Pogona vitticeps)

August 27, 2025

Bearded dragons are famous for their ability to change sex depending on heat and genes. Two new genome…

GGenetics

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

August 21, 2025

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis…

GGenetics

GeneRiskCalc: a web-based tool for genetic risk association analysis in case–control studies | BMC Bioinformatics

August 20, 2025

Hardy–Weinberg equilibrium The HWE is a key principle in population genetics, stating that allele and genotype frequencies remain…

GGenetics

August 19, 2025

Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…

GGenetics

GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants | BMC Bioinformatics

August 13, 2025

GenMasterTable is a standalone, cross-platform desktop application developed in Python to facilitate scalable genomic data analysis. It integrates…

GGenetics

Grant to Help Bring DNA Technology to BC Courses | News

August 7, 2025

A student volunteer of Stacy Alvares’ pilot project extracting crab DNA from crab shells during a summer lab…

GGenetics

Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches

July 28, 2025

Kumar D. Disorders of the genome architecture: a review. Genom Med. 2008;2:69–76. https://doi.org/10.1007/s11568-009-9028-2. Article Google Scholar Shaw CJ,…

GGenetics

Body found in 1994 south of Festus identified | Police Fire

July 22, 2025

A body found just more than three decades ago in the Mississippi River south of Festus has been…

GGenetics

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

July 21, 2025

Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…

GGenetics

MKDESIGNER and TASEQ: a set of tools for plant genotyping by targeted amplicon sequencing | BMC Bioinformatics

July 12, 2025

DNA-based genetic markers have been used in a wide range of biological fields, including medicine, genetics, and molecular…

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

Bearded Dragons Can Switch Sex. Scientists Finally Found Out How

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

GeneRiskCalc: a web-based tool for genetic risk association analysis in case–control studies | BMC Bioinformatics

Neurobehavioral profile of individuals with pathogenic variants in CHD3

GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants | BMC Bioinformatics

Grant to Help Bring DNA Technology to BC Courses | News

Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches

Body found in 1994 south of Festus identified | Police Fire

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

MKDESIGNER and TASEQ: a set of tools for plant genotyping by targeted amplicon sequencing | BMC Bioinformatics