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Predicting the Occurrence of Variants in RAG1 and RAG2

Publications associées (58)

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Complete genomes can be recovered from metagenomes by assembling and binning DNA sequences into metagenome assembled genomes (MAGs). Yet, the presence of microdiversity can hamper the assembly and binning processes, possibly yielding chimeric, highly fragm ...

WILEY2022

Simple Summary:& nbsp;After domestication in specific regions, livestock followed human migrations and colonized the whole world. During this population expansion, human and natural selection, together with demographic events, molded the livestock genome l ...

2021

Population Genomics of Mycobacterium leprae Reveals a New Genotype in Madagascar and the Comoros

Stewart Cole, Andrej Benjak, Charlotte Avanzi, Philippe Busso, Pushpendra Singh, Thyago Leal Calvo

Human settlement of Madagascar traces back to the beginning of the first millennium with the arrival of Austronesians from Southeast Asia, followed by migrations from Africa and the Middle East. Remains of these different cultural, genetic, and linguistic ...

2020

Direct coupling analysis of epistasis in allosteric materials

Matthieu Wyart, Carolina Brito Carvalho dos Santos, Riccardo Ravasio, Barbara Bravi

In allosteric proteins, the binding of a ligand modifies function at a distant active site. Such allosteric pathways can be used as target for drug design, generating considerable interest in inferring them from sequence alignment data. Currently, differen ...

2020

Advances in high‐throughput sequencing have promoted the collection of reference genomes and genome‐wide diversity. However, the assessment of genomic variation among populations has hitherto mainly been surveyed through single‐nucleotide polymorphisms (SN ...

2019

Analysis of Inherited Optic Neuropathies

Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of t ...

2019

Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia

Imen Habibi

Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three probands from an Egyptian population with various forms of A/M: two patients with bilateral anoph ...

2019

The impressive technological advances in genomic analysis and the significant drop in the cost of genome sequencing are paving the way to a variety of revolutionary applications in modern healthcare. In particular, the increasing understanding of the human ...

EPFL2018

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The dramatically decreasing costs of DNA sequencing have triggered more than a million humans to have their genotypes sequenced. Moreover, these individuals increasingly make their genomic data publicly available, thereby creating privacy threats for thems ...

IEEE COMPUTER SOC2018

Detection and benchmarking of somatic mutations in cancer genomes using RNA-seq data

Philipp Bucher, Alexandre Coudray

To detect functional somatic mutations in tumor samples, whole-exome sequencing (WES) is often used for its reliability and relative low cost. RNA-seq, while generally used to measure gene expression, can potentially also be used for identification of soma ...

2018