Connection

Co-Authors

This is a "connection" page, showing publications co-authored by RICHARD GIBBS and FRITZ SEDLAZECK.
Connection Strength

4.243
  1. K-mer analysis of long-read alignment pileups for structural variant genotyping. bioRxiv. 2024 Oct 25.
    View in: PubMed
    Score: 0.245
  2. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. BMC Med Genomics. 2024 10 24; 17(1):255.
    View in: PubMed
    Score: 0.245
  3. Closing the gap: Solving complex medically relevant genes at scale. medRxiv. 2024 Mar 18.
    View in: PubMed
    Score: 0.235
  4. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. bioRxiv. 2023 Apr 27.
    View in: PubMed
    Score: 0.221
  5. Structural variation across 138,134 samples in the TOPMed consortium. Res Sq. 2023 Feb 03.
    View in: PubMed
    Score: 0.217
  6. Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv. 2023 Jan 25.
    View in: PubMed
    Score: 0.217
  7. xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
    View in: PubMed
    Score: 0.216
  8. Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 12 27; 23(1):271.
    View in: PubMed
    Score: 0.216
  9. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
    View in: PubMed
    Score: 0.212
  10. Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 02 15; 11.
    View in: PubMed
    Score: 0.203
  11. Hidden biases in germline structural variant detection. Genome Biol. 2021 12 20; 22(1):347.
    View in: PubMed
    Score: 0.201
  12. Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. PLoS One. 2021; 16(8):e0244468.
    View in: PubMed
    Score: 0.196
  13. Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
    View in: PubMed
    Score: 0.187
  14. Oligonucleotide Capture Sequencing of the SARS-CoV-2 Genome and Subgenomic Fragments from COVID-19 Individuals. bioRxiv. 2020 Dec 11.
    View in: PubMed
    Score: 0.187
  15. Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. bioRxiv. 2020 Jul 27.
    View in: PubMed
    Score: 0.182
  16. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
    View in: PubMed
    Score: 0.173
  17. Evaluation of computational genotyping of structural variation for clinical diagnoses. Gigascience. 2019 09 01; 8(9).
    View in: PubMed
    Score: 0.171
  18. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
    View in: PubMed
    Score: 0.166
  19. Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
    View in: PubMed
    Score: 0.062
  20. GREGoR: Accelerating Genomics for Rare Diseases. ArXiv. 2024 Dec 18.
    View in: PubMed
    Score: 0.062
  21. Complete Genomic Characterization of Global Pathogens, Respiratory Syncytial Virus (RSV), and Human Norovirus (HuNoV) Using Probe-based Capture Enrichment. bioRxiv. 2024 Sep 16.
    View in: PubMed
    Score: 0.061
  22. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
    View in: PubMed
    Score: 0.060
  23. Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance. Virus Evol. 2024; 10(1):vead086.
    View in: PubMed
    Score: 0.058
  24. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv. 2023 Oct 03.
    View in: PubMed
    Score: 0.057
  25. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
    View in: PubMed
    Score: 0.054
  26. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
    View in: PubMed
    Score: 0.053
  27. muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
    View in: PubMed
    Score: 0.048
  28. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
    View in: PubMed
    Score: 0.041
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.