Jesper Eisfeldt

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

M. Garcia, Szilveszter Juhos, Malin Larsson et al. · F1000Research · 2020 · 262 citations · Full text

Medicine, Genetics, Molecular Genetics +17

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

Adam Ameur, Johan Dahlberg, Pall I. Olason et al. · European Journal of Human Genetics · 2017 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson et al. · Genome Medicine · 2019 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

M. Garcia, Szilveszter Juhos, Malin Larsson et al. · F1000Research · 2020 · 125 citations · Full text

Medicine, Genetics, Molecular Genetics +17