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From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts
From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts
Biological samples containing DNA that is attributed to deceased relatives, can now undergo genetic testing at a reasonabl...
The genomic analysis of current-day North African populations reveals the existence of trans-Saharan migrations with different origins and dates
The genomic analysis of current-day North African populations reveals the existence of trans-Saharan migrations with different origins and dates
The Sahara Desert has acted as a barrier to human gene-flow between the northern and central parts of Africa since its ari...
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation
Loss-of-function variants in AP3D1 have been linked to Hermansky–Pudlak syndrome (HPS) 10, a severe multisystem diso...
Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders
Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders
Pain often occurs in parallel with neuropsychiatric disorders. However, the underlying mechanisms and potential causality ...
The genetics of monogenic intestinal epithelial disorders
The genetics of monogenic intestinal epithelial disorders
Monogenic intestinal epithelial disorders, also known as congenital diarrheas and enteropathies (CoDEs), are a group of ra...
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
Copy number variants (CNVs) represent major etiologic factors in rare genetic diseases. Current clinical CNV interpretatio...
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin
Mutations to the OTOF gene are among the most common reasons for auditory neuropathy. Although cochlear implants are often...
Re: “Next generation sequencing in neonatology: what does it mean for the next generation?”
Re: “Next generation sequencing in neonatology: what does it mean for the next generation?”
Available evidence does not support limiting the use of rapid or ultra-rapid exome or genome sequencing in critically ill ...
Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans
Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans
Epilepsy (EP) and congenital heart disease (CHD) are two apparently unrelated diseases that nevertheless display substanti...
Variations in mitochondrial DNA coding and d-loop region are associated with early embryonic development defects in infertile women
Variations in mitochondrial DNA coding and d-loop region are associated with early embryonic development defects in infertile women
Mitochondrial DNA (mtDNA) plays a critical role in oocyte maturation, fertilization, and early embryonic development. Defe...
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections
Whilst DNA repeat expansions cause numerous heritable human disorders, their origins and underlying pathological mechanism...
Genome screening, reporting, and genetic counseling for healthy populations
Genome screening, reporting, and genetic counseling for healthy populations
Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between gene...
The matrilineal ancestry of Nepali populations
The matrilineal ancestry of Nepali populations
The Tibetan plateau and high mountain ranges of Nepal are one of the challenging geographical regions inhabited by modern ...
PMEL is mutated in oculocutaneous albinism
PMEL is mutated in oculocutaneous albinism
Oculocutaneous albinism (OCA) is a group of Mendelian disorders characterized by hypopigmentation of skin, hair and pigmen...
Truncation mutations in MYRF underlie primary angle closure glaucoma
Truncation mutations in MYRF underlie primary angle closure glaucoma
Mutations in myelin regulatory factor (MYRF), a gene mapped to 11q12-q13.3, are responsible for autosomal dominant high hy...
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage
Publisher’s Note: Gene expression levels modulate germline mutation rates through the compound effects of transcription-co...
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the...
Computational interpretation of human genetic variation
Computational interpretation of human genetic variation
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL,...
Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features
Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features
Publisher’s Note: Predicting functional consequences of mutations using molecular interaction network features.The Publish...
Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations
Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations
Publisher’s Note: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic va...
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation
The craniovertebral junction (CVJ) is an anatomically complex region of the axial skeleton that provides protection of the...
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy
Congenital diarrheas and enteropathies (CODEs) constitute a heterogeneous group of individually rare disorders manifesting...
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2
Most patients with congenital anomalies of the kidney and urinary tract (CAKUT) remain genetically unexplained. In search ...
Comprehensive analysis of microsatellite polymorphisms in human populations
Comprehensive analysis of microsatellite polymorphisms in human populations
Microsatellites (MS) are tandem repeats of short units, and have been used for population genetics, individual identificat...
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
Genetic variants in GJB2 are the most frequent cause of congenital and childhood hearing loss worldwide. The purpose of th...
Hemizygosity can reveal variant pathogenicity on the X-chromosome
Hemizygosity can reveal variant pathogenicity on the X-chromosome
Pathogenic variants on the X-chromosome can have more severe consequences for hemizygous males, while heterozygote females...
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Lambdoid craniosynostosis (CS) is a congenital anomaly resulting from premature fusion of the cranial suture between the p...