Results 61 to 70 of about 438,378 (164)

Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders

Human Genomics
Background In the process of finding the causative variant of rare diseases, accurate assessment and prioritization of genetic variants is essential. Previous variant prioritization tools mainly depend on the in-silico prediction of the pathogenicity of ...
Ho Heon Kim, Dong-Wook Kim, Junwoo Woo, Kyoungyeul Lee   +3 more
doaj   +1 more source

Algorithm for Searching the Optimal Regulator Supply Mode in the Process of Manufacturing Polymer Products

Инженерные технологии и системы
Introduction. The high demand for polymer products creates the need for constant mo­dernization of the technological aspects of their production, increasing the efficiency of which is impossible without a model description and solving problems of ...
Eldar N. Miftakhov
doaj   +1 more source

Retracted: Protection and Inheritance of Traditional Culture in Urbanization Construction Based on Genetic Algorithm under the Concept of Environmental Protection

Journal of Environmental and Public Health, 2023
openaire   +1 more source

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. [PDF]

HGG Adv
Rockowitz S, Shao W, French C, Truong TK, Hagen J, McGonigle R, Geltzeiler A, Sheidley B, Smith L, D'Gama AM, Irons M, Chou J, Stoler J, Kritzer A, Rodan L, Shimamura A, Bodamer O, Sacharow S, Soul JS, Srivastava S, Kennedy AR, Abu-El-Haija A, Lai A, Olson H, Juusola J, Ryan E, Friedman B, Singh A, Li C, Mallik R, Strickland G, Prinzing G, Mo A, O'Donnell-Luria A, Bolton J, Boone PM, Brucker W, Duyzend M, Mahida S, Miller DT, Omorodion J, Petit J, Picker J, Poduri A, Carlston C, Wojcik MH, Sliz P, Chung WK.   +47 more
europepmc   +1 more source

A forest is more than its trees: haplotypes and ancestral recombination graphs. [PDF]

Genetics
Fritze H, Pope N, Kelleher J, Ralph P.
europepmc   +1 more source

Estimating recombination fraction via Pearson correlation. [PDF]

Theor Appl Genet
Teng CS, Xu S.
europepmc   +1 more source

On ARGs, pedigrees, and genetic relatedness matrices. [PDF]

Genetics
Lehmann B, Lee H, Anderson-Trocmé L, Kelleher J, Gorjanc G, Ralph PL.   +5 more
europepmc   +1 more source

The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis. [PDF]

J Clin Med
Alsugair M, Alsuhaym F, Aldharee H, Alobaisi S, Alsharani S, Alwatban S, Alnahdi MA, Al Balwi M.   +7 more
europepmc   +1 more source

ATP6V1B1-Associated Inherited Distal Renal Tubular Acidosis in Children: Insights from a Literature Review. [PDF]

Children (Basel)
Bot Rachisan AL, Colceriu MC, Jecan-Toader D, Bulata B, Delean D, Sparchez M.   +5 more
europepmc   +1 more source

Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue. [PDF]

Mol Genet Genomic Med
Urban RM, Kanwar N, Holdren MA, Hoenig MF, Rust LM, Wick MJ, Ferber MJ, Niu Z, Gupta S, Shen W.   +9 more
europepmc   +1 more source