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The relationship between the two estimates of genetic variation at the DNA level, namely the number of segregating sites and the average number of nucleotide differences estimated from pairwise comparison, is investigate...

Unexplained coagulopathy with persistent anemia presents a significant diagnostic challenge and requires a broad differential. Isolated coagulation factor deficiencies are uncommon and described only sporadically in the ...

Verificar que un sistema de software realiza correctamente las tareas para las cuales fue desarrollado es una de las actividades de mayor importancia en Ingeniería de Software, y concentra un significativo esfuerzo de i...

Abstract Background Rifampicin-resistant tuberculosis (RR-TB) remains a major challenge for TB control in Malawi, particularly in densely populated districts such as Blantyre. Most rifampicin resistance is caused by muta...

Abstract Human Immunodeficiency Virus / Acquired Immunodeficiency Syndrome (HIV/AIDS) is a major public health problem affecting an estimated 38.4 million people globally, with 54% of them being from the Eastern and Sou...

The population of early-onset Alzheimer’s disease (EOAD) accounts for 1%–2% of the total population of Alzheimer’s disease, and genetic mutations are more common in EOAD. The first symptom of the patient in the pre...

Abstract Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) syndrome is a recently recognized rare channelopathy caused by gain-of-function mutations in the SCN5A gene, leading to a high burden of prematu...

Background Primary ciliary dyskinesia (PCD) is generally a recessively inherited disorder characterized by dysfunction of motile cilia. A mutation in a new causative gene (CCDC39) has been identified in the Old English S...

CTLA4 haploinsufficiency is caused by mutations in the CTLA4 gene. The loss of this important immune checkpoint leads to uncontrolled production of lymphocytes, causing infiltration of T cells into multiple organs (gastr...

ABSTRACT Background Familial narcolepsy in dogs has been associated with mutations in the HCRTR2 gene in Labrador retrievers, dachshunds, and Doberman pinschers, with the causal mutation differing between breeds. Objecti...

Abstract Background Holter electrocardiographic monitoring is a cornerstone of diagnostic testing for arrhythmogenic cardiomyopathy (ACM) in Boxer dogs, but physical activity during monitoring is not controlled. In human...

BackgroundRAS-associated autoimmune leukoproliferative disorder (RALD) is a rare immune-dysregulation syndrome caused by pathogenic mutations in RAS–MAPK pathway genes, most commonly KRAS. It is characterized by autoim...

We are reporting a 14-year-old male who presented at 12 years of age with recurrent episodes of hypothermia and bradycardia (30s) secondary to culture-negative septic shock from presumed viral respiratory illnesses. His ...

Abstract Hypohidrotic ectodermal dysplasia (HED), caused by mutations in genes such as EDAR, is a genetic disorder characterized by hypodontia, hypotrichosis, and hypohidrosis. Dental anomalies in HED patients lead to fu...

Hypertrophic cardiomyopathy (HCM) is a common hereditary cardiovascular disease, but the genetic etiology of nearly 50% of cases remains unclear. This case report describes two siblings in a non-consanguineous family who...

"In this paper, we analyze the effect of reducing object redundancy in random testing, by comparing the Randoop random testing tool with a version of the tool that disregards tests that only produce objects that have bee...

Abstract Background The prevalence of clinical signs and factors triggering muscle atrophy and rhabdomyolysis associated with an MYH1E321G mutation in Quarter Horses and related breeds (QH) remain poorly understood. Hypo...

Abstract Although papillary thyroid cancer (PTC) genetic research has advanced from identifying driver genes to investigating susceptibility loci and gene-environment interactions, data in Chinese populations remain limi...

Abstract Background Lynch syndrome (LS) is a common hereditary cancer predisposition syndrome caused by pathogenic germline mutations in MMR genes. This study aimed to conduct LS screening in a South Chinese Endometrial ...

Abstract Background High-throughput sequencing (HTS) enables the detection of low-frequency HIV-1 drug resistance mutations (DRMs) that are often missed by conventional Sanger sequencing. However, the clinical implementa...

Resumen: Las mutaciones germinales en genes de predisposición al cáncer han dejado de ser una información sólo asociada al riesgo de cáncer hereditario, en la actualidad se han convertido en un verdadero motor de ca...

Abstract Background Growing evidence from dogs and humans supports the abundance of mutation‐based biomarkers in tumors of dogs. Increasing the use of clinical genomic diagnostic testing now provides another powerful d...

A 5-year-old female presented at age 2 with recurrent respiratory and ear infections, aphthous ulcers, and severe neutropenia (absolute neutrophil count [ANC] = 400 cells/mcl). Immunological testing at age 4 showed neutr...

ABSTRACT Background Major genetic risk loci and causative mutations classified as LPN1 (Leonberger polyneuropathy type 1), LPN2 (Leonberger polyneuropathy type 2), and LPPN3 (Laryngeal paralysis polyneuropathy type 3) ha...