User profiles for Laure Frésard
Laure FresardComputational Biologist, Invitae Verified email at invitae.com Cited by 8907 |
Directed evolution using dCas9-targeted somatic hypermutation in mammalian cells
Engineering and study of protein function by directed evolution has been limited by the
technical requirement to use global mutagenesis or introduce DNA libraries. Here, we develop …
technical requirement to use global mutagenesis or introduce DNA libraries. Here, we develop …
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases
Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …
variants associated with disease phenotypes. However, most of these variants do not alter …
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene 1 . The current molecular diagnostic rate is …
predominantly caused by mutation in a single gene 1 . The current molecular diagnostic rate is …
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
…, E Eskin, PG Ferreira, L Frésard… - Genome …, 2017 - genome.cshlp.org
Gene co-expression networks capture biologically important patterns in gene expression
data, enabling functional analyses of genes, discovery of biomarkers, and interpretation of …
data, enabling functional analyses of genes, discovery of biomarkers, and interpretation of …
Detection of aberrant gene expression events in RNA sequencing data
…, D Klaproth-Andrade, L Wachutka, L Frésard… - Nature protocols, 2021 - nature.com
RNA sequencing (RNA-seq) has emerged as a powerful approach to discover disease-causing
gene regulatory defects in individuals affected by genetically undiagnosed rare disorders…
gene regulatory defects in individuals affected by genetically undiagnosed rare disorders…
[PDF][PDF] Elevated CD47 is a hallmark of dysfunctional aged muscle stem cells that can be targeted to augment regeneration
In aging, skeletal muscle strength and regenerative capacity decline, due in part to functional
impairment of muscle stem cells (MuSCs), yet the underlying mechanisms remain elusive. …
impairment of muscle stem cells (MuSCs), yet the underlying mechanisms remain elusive. …
[HTML][HTML] Epigenetics and phenotypic variability: some interesting insights from birds
Little is known about epigenetic mechanisms in birds with the exception of the phenomenon
of dosage compensation of sex chromosomes, although such mechanisms could be …
of dosage compensation of sex chromosomes, although such mechanisms could be …
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
Induced pluripotent stem cells (iPSCs) are an established cellular system to study the impact
of genetic variants in derived cell types and developmental contexts. However, in their …
of genetic variants in derived cell types and developmental contexts. However, in their …
[PDF][PDF] Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder
ATP synthase, H + transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly
ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling …
ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling …
Transcriptome-wide investigation of genomic imprinting in chicken
Genomic imprinting is an epigenetic mechanism by which alleles of some specific genes are
expressed in a parent-of-origin manner. It has been observed in mammals and marsupials, …
expressed in a parent-of-origin manner. It has been observed in mammals and marsupials, …