Cécile Grohs
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<span>NOA1</span> deficiency observed in a subset of Montbéliarde calves with bilateral anophthalmia Open
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View article: Comprehensive detection of structural variations in long and short reads dataset of French cattle
Comprehensive detection of structural variations in long and short reads dataset of French cattle Open
Structural variants (SVs) correspond to different types of genomic variants larger than 50 bp. Many findings suggest the use of long-read (LR) rather than short-read (SR) sequencing to improve the accuracy of SVs detection. Here, we presen…
View article: A recessive deleterious missense variant in <scp>PEX7</scp> causes a lethal form of chondrodysplasia in Bazadaise cattle
A recessive deleterious missense variant in <span>PEX7</span> causes a lethal form of chondrodysplasia in Bazadaise cattle Open
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View article: Comprehensive detection of structural variations in long and short reads dataset of French cattle
Comprehensive detection of structural variations in long and short reads dataset of French cattle Open
Structural variants (SVs) correspond to different types of genomic variants larger than 50 bp. Many findings suggest the use of long rather than short reads to improve the accuracy of SV detection. Here, we present the results of an in-dep…
View article: Application of a French cattle pangenome, from structural variant discovery to association studies on key phenotypes
Application of a French cattle pangenome, from structural variant discovery to association studies on key phenotypes Open
Background The current cattle reference genome assembly, a pseudo-linear sequence produced using sequences from a single Hereford cow, represent a limit when performing genetic studies, especially when investigating the whole spectrum of g…
View article: Validated DNA isolation method ensuring successful long-read sequencing of cattle semen genome
Validated DNA isolation method ensuring successful long-read sequencing of cattle semen genome Open
Obtaining high-quality DNA suitable for long-read sequencing can be difficult for many types of tissues and cells, and it is a key step in current genomic studies. The challenge is even greater when it comes to isolating genomic DNA from m…
View article: Detection and characterization of cytogenetic defects in cattle using large genotypic and phenotypic data sets generated for genomic evaluation
Detection and characterization of cytogenetic defects in cattle using large genotypic and phenotypic data sets generated for genomic evaluation Open
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View article: A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in the<i>GNPAT</i>gene
A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in the<i>GNPAT</i>gene Open
Background Genetic defects that occur naturally in livestock species provide valuable models for investigating the molecular mechanisms underlying rare human diseases. Livestock breeds are subject to the regular emergence of recessive gene…
Histology examination: preparation and staining of bovine tissues v1 Open
Histology is a technique that makes it possible to highlight what we want to observe and to "fix" a sample at a given time, while preserving characteristics close to its living state (fixation). For example, some elements, cells or cellula…
Genotyping of a candidate variant by PCR and Sanger sequencing v1 Open
This procedure describes a classic process for genotyping a simple SNP or small INDEL by PCR followed by Sanger sequencing, which can be easily analysed. It is used for the validation or invalidation of a candidate variant that has been id…
DNA isolation from cattle tissues: blood, semen or any kind of tissues, including ear biopsies v1 Open
Here we describe a routine method for isolate DNA from different kinds of tissues: commercially available frozen semen straws, blood, ear biopsies, or other tissues. This protocol is based on a salting-out method and uses several commercia…
View article: Massive detection of cryptic recessive genetic defects in cattle mining millions of life histories
Massive detection of cryptic recessive genetic defects in cattle mining millions of life histories Open
We present a data-mining framework designed to detect recessive defects in livestock that have been previously missed due to a lack of specific signs, incomplete penetrance, or incomplete linkage disequilibrium. This approach leverages the…
A Bos taurus sequencing methods benchmark for assembly, haplotyping, and variant calling Open
Inspired by the production of reference data sets in the Genome in a Bottle project, we sequenced one Charolais heifer with different technologies: Illumina paired-end, Oxford Nanopore, Pacific Biosciences (HiFi and CLR), 10X Genomics link…
View article: Large-scale detection and characterization of interchromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype data sets
Large-scale detection and characterization of interchromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype data sets Open
In this paper, we developed a highly sensitive approach to detect interchromosomal rearrangements in cattle by searching for abnormal linkage disequilibrium patterns between markers located on different chromosomes in large paternal half-s…
View article: Improvement of the Bos taurus Genome Assembly using New Sequencing Technologies
Improvement of the Bos taurus Genome Assembly using New Sequencing Technologies Open
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DNA isolation from cattle semen for long read sequencing v1 Open
Here we describe a method for isolate high molecular weight DNA from commercially available frozen bull semen straws. This protocol is based on a salting-out method and uses several commercially available solutions. It consists of several …
Additional file 1 of Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle Open
Additional file 1: Table S1. List of candidate variants for a new recessive form of JEB in Charolais cattle.
Detailed analysis of mortality rates in the female progeny of 1,001 Holstein bulls allows the discovery of new dominant genetic defects Open
Reducing juvenile mortality in cattle is important for both economic and animal welfare reasons. Previous studies have revealed a large variability in mortality rates between breeds and sire progeny groups, with some extreme cases due to d…
Rare cases of hernia of the linea alba among TWIST1 haploinsufficient Charolais cattle Open
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Additional file 2 of Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle Open
Additional file 2: Table S2. Characteristics of the 26 Limousine CP-affected animals described in this study.
Additional file 4 of Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle Open
Additional file 4: Table S3. Frequency analysis of the MYH3 mutations in 834,792 animals from 14 commercial breeds based on genotyping with EuroG10k v8 and EuroGMD SNP chips. The two mutations are totally linked, thus the frequency is the …
Additional file 1 of Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle Open
Additional file 1: Table S1. List of the disorders in animals (except man, mouse, rat and zebrafish) which include “cleft palate” as a clinical sign. All the data originate from OMIA (Online Mendelian Inheritance in Animals, www.omia.org )…
View article: New insights into resistance to paratuberculosis from sequence-based GWAS in Holstein cattle
New insights into resistance to paratuberculosis from sequence-based GWAS in Holstein cattle Open
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