Concept

Genetic counseling

Related publications (221)

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with bial ...

2019

Chromatin three-dimensional interactions mediate genetic effects on gene expression

David Hacker, Giovanna Ambrosini, Philipp Bucher, Sanjeev Kumar

Studying the genetic basis of gene expression and chromatin organization is key to characterizing the effect of genetic variability on the function and structure of the human genome. Here we unravel how genetic variation perturbs gene regulation using a da ...

2019

Diet modulates cecum bacterial diversity and physiological phenotypes across the BXD mouse genetic reference population

Johan Auwerx, Evan Graehl Williams

The BXD family has become one of the preeminent genetic reference populations to understand the genetic and environmental control of phenotypic variation. Here we evaluate the responses to different levels of fat in the diet using both chow diet (CD, 13-18 ...

PUBLIC LIBRARY SCIENCE2019

Genome-wide gene-based analyses of weight loss interventions identify a potential role for NKX6.3 in metabolism

Patrick Descombes, Sylviane Métairon, Jörg Hager, Hélène Ruffieux, Nele Gheldof

Hundreds of genetic variants have been associated with Body Mass Index (BMI) through genome-wide association studies (GWAS) using observational cohorts. However, the genetic contribution to efficient weight loss in response to dietary intervention remains ...

Springer2019

Anxiety and Brain Mitochondria: A Bidirectional Crosstalk

Maria del Carmen Sandi Perez

Accumulating data highlight the contribution of brain mitochondria and bioenergetics to psychiatric disorders and stress-related pathologies. Although anxiety has not received much attention in this booming literature, a bidirectional interplay between anx ...

2019

Phenylalanine Monitoring via Aptamer-Field-Effect Transistor Sensors

Nako Nakatsuka

Determination of the amino acid phenylalanine is important for lifelong disease management in patients with phenylketonuria, a genetic disorder in which phenylalanine accumulates and persists at levels that alter brain development and cause permanent neuro ...

2019

Predicting the Occurrence of Variants in RAG1 and RAG2

Jacques Fellay, Dylan Lawless, Flavia Aurelia Shoko Hodel

While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an inability to predict clinically ...

2019

EEG signatures of schizophrenia: visual backward masking and microstates

Janir Nuno Ramos Antunes Da Cruz

Schizophrenia is a complex and devastating mental disorder that influences how one behaves, feels, and thinks. It affects a little less than 1 % of the world population and it is understood to be partly genetically mediated. Several genetic risk factors of ...

EPFL2019

An Interactive Gameplay to Crowdsource Multiple Sequence Alignment of Genome Sequences: Genenigma

Comparative genomics is a field of research that compares genomes of different organisms to identify common patterns. It is a powerful method used to identify the genetic diseases that cause mutations. Multiple Sequence Alignment (MSA) is an intermediate s ...

ASSOC COMPUTING MACHINERY2019

Metabolomics reveals tepotinib‐related mitochondrial dysfunction in MET activating mutations‐driven models

Katarzyna Pierzchala

Genetic aberrations in the hepatocyte growth factor receptor tyrosine kinase MET induce oncogenic addiction in various types of human cancers, advocating MET as a viable anticancer target. Here, we report that MET signaling plays an important role in confe ...

2019

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