Connection

WEIMIN BI to High-Throughput Nucleotide Sequencing

This is a "connection" page, showing publications WEIMIN BI has written about High-Throughput Nucleotide Sequencing.
  1. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 08; 170(8):2181-5.
    View in: PubMed
    Score: 0.329
  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: 0.109
  3. 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: 0.027
  4. 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: 0.025
  5. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
    View in: PubMed
    Score: 0.021
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.