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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic dis...
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome
Multigene panel tests (MGPTs) revolutionized the diagnosis of Lynch syndrome (LS), however noncoding pathogenic variants (...
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing
Maturation of αβ lineage T cells in the thymus relies on the formation and cell surface expression of a pre-T ce...
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador
Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) is the most common form of heredi...
Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient
Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient
Immunocompromised patients struggle to adequately clear viral infections, offering the virus the opportunity to adapt to t...
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing
High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, only half of which is explained. Previ...
Author Correction: The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, 753...
Clinical and genetic characterization of patients with late onset Wilson’s disease
Clinical and genetic characterization of patients with late onset Wilson’s disease
Wilson’s disease (WD) typically manifests in children and young adults, with little knowledge of its late-onset form...
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism
Genome-wide sequencing of the DNA that can be obtained from a newborn screening blood spot could provide predictions of th...
Functional assessment of IDUA variants of uncertain significance identified by newborn screening
Functional assessment of IDUA variants of uncertain significance identified by newborn screening
With the expansion of newborn screening efforts for MPS disorders, the number of identified variants of uncertain signific...
Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts
Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts
Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caus...
Efficient reinterpretation of rare disease cases using Exomiser
Efficient reinterpretation of rare disease cases using Exomiser
Whole genome sequencing has transformed rare disease research; however, 50–80% of rare disease patients remain undia...
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
Long-read sequencing can often overcome the deficiencies in routine microarray or short-read technologies in detecting com...
Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology
Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology
The NRXN1 locus is a hotspot for non-recurrent copy number variants and exon-disrupting NRXN1 deletions have been associat...
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes
Boston Children’s Hospital has established a genomic sequencing and analysis research initiative to improve clinical...
Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
Black women face the highest mortality-to-incidence ratio from high grade serous ovarian cancer (HGSOC). This study invest...
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
Autism spectrum disorder (ASD) comprises neurodevelopmental disorders with wide variability in genetic causes and phenotyp...
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
The global burden of undiagnosed diseases, particularly in adults, is rising due to their significant socioeconomic impact...
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases
Cancer genetic data from Sub-Saharan African (SSA) are limited. Patients with female breast (fBC), male breast (mBC), and ...
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population
The genetic architecture of white matter lesions (WMLs) in Asian populations has not been well-characterized. Here, we per...
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity....
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
Approximately 200 critically ill infants and children in New Zealand are in high-dependency care, many suspected of having...
Alternative splicing is coupled to gene expression in a subset of variably expressed genes
Alternative splicing is coupled to gene expression in a subset of variably expressed genes
Numerous factors regulate alternative splicing of human genes at a co-transcriptional level. However, how alternative spli...
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
We identified two homozygous truncating variants in GON4L [NM_001282860.2:c.62_63del, p.(Gln21Argfs*12) and c.5517+1G&...
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients
Vincristine-induced peripheral neuropathy is a common and highly debilitating toxicity from vincristine treatment that aff...
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 ...
Clinical genome sequencing in patients with suspected rare genetic disease in Peru
Clinical genome sequencing in patients with suspected rare genetic disease in Peru
There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides ...
Severe traumatic injury is associated with profound changes in DNA methylation
Severe traumatic injury is associated with profound changes in DNA methylation
Whether DNA methylation changes follow human physical trauma is uncertain. We aimed to investigate if severe trauma was as...
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
Repeat expansions cause at least 50 hereditary disorders, including Friedreich ataxia and other diseases known to cause mi...
SLC16A8 is a causal contributor to age-related macular degeneration risk
SLC16A8 is a causal contributor to age-related macular degeneration risk
Age-related macular degeneration (AMD), a complex neurodegenerative disease, is a leading cause of visual impairment world...
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