Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C. Taylor, Hilary C. Martin, Stefano Lise, +105

Nature Genetics

SequencingPsychiatryClinical GenomeGeneticsMedicine +6

Positional cloning of a novel gene influencing asthma from Chromosome 2q14

Maxine Allen, Andrea Heinzmann, Emiko Noguchi, +26

Nature Genetics

AsthmaAllergyNovel GeneGenetic DisorderGenetics +6

A Fine-Scale Chimpanzee Genetic Map from Population Sequencing

Adam Auton, Adi Fledel-Alon, Susanne P. Pfeifer, +20

Science

BiologyMolecular EcologyBase CompositionMedicineGenetics +12

A blood atlas of COVID-19 defines hallmarks of disease severity and specificity

David Ahern, Zhichao Ai, Mark Ainsworth, +202

Cell

Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma

Youming Zhang, N. I. Leaves, Gavin Anderson, +20

Nature Genetics

AsthmaImmunogeneticsAllelic VariantQuantitative GeneticsAllergy +11

Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots

Michael Phillips, Robert Lawrence, Ravi Sachidanandam, +32

Nature Genetics

Haplotype DeterminationMolecular EcologyMedicineGeneticsEvolutionary Biology +10

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

H. Christian Martin, Grace Kim, A. T. Pagnamenta, +29

Human Molecular Genetics

EngineeringGeneticsDisease Gene IdentificationGenomicsPotassium Channel +19

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations

Andrea Pellagatti, Richard N. Armstrong, Violetta Steeples, +27

Blood

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Vikram Sharma, Aimée L Fenwick, Mia Brockop, +23

Nature Genetics

Frequent CauseMolecular BiologyCraniofacial DevelopmentMolecular GeneticsMedicine +4

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

Morag Shanks, Susan M. Downes, Richard R. Copley, +13

European Journal of Human Genetics

Ocular DiseaseSequencingRetinaOphthalmologyMedicine +7