Concepedia

Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing

Lisa A. Lansdon, Maxime Cadieux‐Dion, Byunggil Yoo, Neil Miller, Ana S.A. Cohen, Lee Zellmer, Lei Zhang, Emily Farrow, Isabelle Thiffault, Elena Repnikova,

Journal of Molecular Diagnostics · 2021 · 27 citations · 15 references

DOIFull text

Open access

Concepts

References

15

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text

, , +10

The Sequence of the Human Genome

J. Craig Venter, Mark D. Adams, Eugene W. Myers et al. · Science · 2001 · 13.7K citations

, , +11

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

, , +17

ClinVar: improving access to variant interpretations and supporting evidence

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2017 · 4.5K citations · Full text

, , +17

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan et al. · The American Journal of Human Genetics · 2009 · 2.1K citations · Full text

, , +14