Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.

Three generation families: Analysis of de novo variants in autism.

De novo variants (DNVs) analysis has proven to be a powerful approach to gene discovery in Autism Spectrum Disorder (ASD), which has not yet been shown in a Brazilian ASD cohort. The relevance of inherited rare variants has also been suggested, particularly in oligogenic models. We hypothesized that three-generation analyses of DNVs could provide new insights into the relevance of de novo and inherited variants across generations.

Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis.

Purpose: Genome sequencing (GS) can aid clinical management of multiple pediatric conditions. Insurers require accurate cost information to inform funding and implementation decisions. The objective was to compare the laboratory workflows and microcosts of trio GS testing in children with developmental delay (DD) and in children with cardiac conditions.

Expanding the search for genetic biomarkers of Parkinson's disease into the living brain.

Altered gene expression related to Parkinson's Disease (PD) has not been described in the living brain, yet this information may support novel discovery pertinent to disease pathophysiology and treatment. This study compared the transcriptome in brain biopsies obtained from living PD and Control patients. To evaluate the novelty of this data, a comprehensive literature review also compared differentially expressed gene (DEGs) identified in the current study with those reported in PD cadaveric brain and peripheral tissues.

The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF.

Background: Therapies targeting certain CFTR mutants have been approved, yet variations in clinical response highlight the need for in-vitro and genetic tools that predict patient-specific clinical outcomes. Toward this goal, the CF Canada-Sick Kids Program in Individual CF Therapy (CFIT) is generating a "first of its kind", comprehensive resource containing patient-specific cell cultures and data from 100 CF individuals that will enable modeling of therapeutic responses.

Methods: The CFIT program is generating: 1) nasal cells from drug naïve patients suitable for culture and the study of drug responses in vitro, 2) matched gene expression data obtained by sequencing the RNA from the primary nasal tissue, 3) whole genome sequencing of blood derived DNA from each of the 100 participants, 4) induced pluripotent stem cells (iPSCs) generated from each participant's blood sample, 5) CRISPR-edited isogenic control iPSC lines and 6) prospective clinical data from patients treated with CF modulators.

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

A remaining hurdle to whole-genome sequencing (WGS) becoming a first-tier genetic test has been accurate detection of copy-number variations (CNVs). Here, we used several datasets to empirically develop a detailed workflow for identifying germline CNVs >1 kb from short-read WGS data using read depth-based algorithms. Our workflow is comprehensive in that it addresses all stages of the CNV-detection process, including DNA library preparation, sequencing, quality control, reference mapping, and computational CNV identification.

A homozygous mutation in the stem II domain of causes typical Roifman syndrome.

Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the gene. This small nuclear RNA gene is essential for minor intron splicing. The Canadian Centre for Primary Immunodeficiency Registry and Repository were used to derive patient information as well as tissues.

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.

PurposeWhole-exome (WES) and whole-genome sequencing (WGS) increase the diagnostic yield in autism spectrum disorder (ASD) compared to chromosomal microarray (CMA), but there have been no comprehensive cost analyses. The objective was to perform such an assessment of CMA, WES, and WGS and compare the incremental cost per additional positive finding in hypothetical testing scenarios.MethodsFive-year patient and program costs were estimated from an institutional perspective.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.

Genome and Transcriptome Assembly of the Canadian Beaver ().

The Canadian beaver () is the largest indigenous rodent in North America. We report a draft annotated assembly of the beaver genome, the first for a large rodent and the first mammalian genome assembled directly from uncorrected and moderate coverage (< 30 ×) long reads generated by single-molecule sequencing. The genome size is 2.

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The aim of this study was to evaluate the antiplaque effect of Ocimum gratissimum (Og) by in vivo investigation. Fifteen healthy volunteers participated in a crossover, double-blind clinical study, using a 3-day partial-mouth plaque accumulation model. The participants abolished any method of mechanical oral hygiene and they were randomly assigned to initially use just the following mouthrinses: distilled water (DW solution), 0.

The genetic diversity of Epstein-Barr virus in the setting of transplantation relative to non-transplant settings: A feasibility study.

This study examines EBV strains from transplant patients and patients with IM by sequencing major EBV genes. We also used NGS to detect EBV DNA within total genomic DNA, and to evaluate its genetic variation. Sanger sequencing of major EBV genes was used to compare SNVs from samples taken from transplant patients vs.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential for minor intron splicing. Targeted sequencing confirms allele segregation in six cases from four unrelated families.

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.

Background: We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. Karyotype was normal in all three foetuses (46, XX) and comparative genomic hybridization microarray analysis detected no pathogenic copy number variants.

Effect of Lippia sidoides in mouthrinses on de novo plaque formation: a double-blind clinical study in humans.

Aim: The aim of this study was to evaluate the antiplaque effect of Lippia sidoides (LS) by in vivo investigation.

Materials And Methods: Ten healthy volunteers participated in a cross-over, double-blind clinical study, using a 3-day partial-mouth plaque accumulation model. The participants abolished any method of mechanical oral hygiene and they were randomly assigned initially to use just the following mouth rinses: Distilled water (negative control group), 0.

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.

Background: Mutations in the gene for the signal transducer and activator of transcription 1, STAT1, have been shown to be associated with death at an early age due to overwhelming viral infection (complete STAT1 deficiency) or, more commonly, selective deficiencies to mycobacterial or fungal infection (typically heterozygous STAT1 mutations).

Objectives: To define the molecular basis of progressive combined immunodeficiency in a group of patients with fatal infections.

Methods: We studied a group of unrelated patients who displayed an unusual progressive form of combined immunodeficiency.

Clinical effect of a gel containing Lippia sidoides on plaque and gingivitis control.

Objective: This parallel controlled clinical trial evaluated the effect of a gel containing Lippia sidoides essential oil on plaque and gingivitis control.

Methods: Thirty patients (n=30) were randomly selected and allocated into three groups: Lippia sidoides (LS, n=10), chlorhexidine (CLX, n=10) or placebo (control, n=10). Plaque and bleeding index were recorded at baseline and after three months.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.

Background: Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2.

Evaluation of cone beam computed tomography in the detection of horizontal periodontal bone defects: an in vivo study.

The purpose of this in vivo study was to verify the accuracy of cone beam computed tomography (CBCT) in the measurement of horizontal periodontal bone defects. Six patients with periodontitis were selected, and eight maxillary molars were assessed. A total of 72 measurements were performed.

Clinical effect of a mouth rinse containing Ocimum gratissimum on plaque and gingivitis control.

Aim: The effect of Ocimum gratissimum (Og) on the reduction of dental plaque and gingivitis was evaluated in a randomized, parallel and double-blind clinical trial.

Materials And Methods: Subjects were randomly allocated to the control group (n=10)-mouth rinse with no antiseptic agents; CLX group (n=10)-mouth rinse containing chlorhexidine digluconate or Og group (n=10)-mouth rinse containing Ocimum gratissimum. Plaque (PLI) and bleeding (BI) indexes were assessed at days 0 and after 3 months.

The enigmatic monotypic crab plover Dromas ardeola is closely related to pratincoles and coursers (Aves, Charadriiformes, Glareolidae).

The phylogenetic placement of the monotypic crab plover Dromasardeola (Aves, Charadriiformes) remains controversial. Phylogenetic analysis of anatomical and behavioral traits using phenetic and cladistic methods of tree inference have resulted in conflicting tree topologies, suggesting a close association of Dromas to members of different suborders and lineages within Charadriiformes. Here, we revisited the issue by applying Bayesian and parsimony methods of tree inference to 2,012 anatomical and 5,183 molecular characters to a set of 22 shorebird genera (including Turnix).

Evaluation of pitch up of two-axle solid waste collection compactor trucks in the static condition.

The study of pitch up limit for solid waste collection compactor trucks in tilted public roads is of great relevance both for the planning of waste collection, mainly in cities with very uneven street gradient, or for use as a design parameter in projects involving public roads. Considering the typical construction and use of rear loader waste compactor equipment, the centre of gravity moves towards the rear of the vehicle as it is loaded, resulting in overload in the rear axle at the end of the waste collection period. In the city of Belo Horizonte (Brazil), several cases of pitch up have been reported for this type of vehicle, in streets with different inclinations and with loading situations in which the load box was not completely full.