Connection

CHRISTOPHER GROCHOWSKI to High-Throughput Nucleotide Sequencing

This is a "connection" page, showing publications CHRISTOPHER GROCHOWSKI has written about High-Throughput Nucleotide Sequencing.
  1. Validation of Single-Nucleotide Mosaic Variants Through Droplet Digital PCR. Curr Protoc. 2024 May; 4(5):e1041.
    View in: PubMed
    Score: 0.159
  2. Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. Curr Protoc Hum Genet. 2020 06; 106(1):e99.
    View in: PubMed
    Score: 0.121
  3. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
    View in: PubMed
    Score: 0.039
  4. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 11; 22(11):1768-1776.
    View in: PubMed
    Score: 0.031
  5. Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941.
    View in: PubMed
    Score: 0.030
  6. Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. Am J Med Genet A. 2016 Mar; 170(3):750-3.
    View in: PubMed
    Score: 0.022
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.