Co-Authors
This is a "connection" page, showing publications co-authored by CHRISTOPHER GROCHOWSKI and FRITZ SEDLAZECK.
Connection Strength
1.479
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Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractions. bioRxiv. 2025 Sep 20.
Score: 0.239
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Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1616.
Score: 0.224
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.219
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Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
Score: 0.212
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Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv. 2023 Oct 03.
Score: 0.209
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De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline. Am J Med Genet A. 2026 Apr 07.
Score: 0.062
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 12 18; 16(1):146.
Score: 0.057
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Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. Genome Res. 2024 11 20; 34(11):1785-1797.
Score: 0.056
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Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions. medRxiv. 2024 Apr 24.
Score: 0.054
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A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
Score: 0.050
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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.
Score: 0.049
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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.
Score: 0.049