Results 61 to 70 of about 72,058 (269)

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Genome Medicine, 2021
Background Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases.
Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar Javier Hernandez, Terence Wong, Kiely James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, Andre Franke, Braden Boone, Shawn E. Levy, Katrin Õunap, Sander Pajusalu, Matt Huentelman, Keri Ramsey, Marcus Naymik, Vinodh Narayanan, Narayanan Veeraraghavan, Paul Billings, Martin G. Reese, Mark Yandell, Stephen F. Kingsmore   +27 more
doaj   +1 more source

Myths and Legends of the Baldwin Effect [PDF]

, 1996
This position paper argues that the Baldwin effect is widely misunderstood by the evolutionary computation community. The misunderstandings appear to fall into two general categories.
Turney, Peter
core   +3 more sources

Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants. [PDF]

, 2019
De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of ...
Brown, C Titus, Hormozdiari, Fereydoun, Standage, Daniel S   +2 more
core   +1 more source

A Smart Magnetically Actuated Flip‐Disc Programmable Metasurface with Ultralow Power Consumption for Real‐Time Channel Control

Advanced Functional Materials, EarlyView.
The study proposes a 1‐bit programmable metasurface based on flip‐disc display, named flip‐disc metasurface (FD‐MTS). This new design enables ultralow energy consumption while maintaining coding patterns. It also exhibits high scalability and multifunctional flexibility.
Jiang Han Bao, Che Liu, Jia Cheng Li, Zhen Hao Fu, Yi Su Huang, Si Qi Huang, Lei Zhang, Jian Wei You, Tie Jun Cui   +8 more
wiley   +1 more source

A Method for Calculating Whole-Genome Sequencing Outcomes from Trio Data

Algorithms
Background. Whole-genome sequencing (WGS) enables comprehensive detection of genetic variants but faces limitations in benchmarking due to incomplete reference datasets.
Nikita Koltunov, Egor Guguchkin, Oleg Samovarov, Liudmila Mikhailova, Evgeny Karpulevich   +4 more
doaj   +1 more source

PERFORMING GONADECTOMY IN A 15-YEAR-OLD BULGARIAN GIRL WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME: A CASE REPORT [PDF]

Journal of IMAB
Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic Disorder of Sex Development linked to the X chromosome. It occurs due to mutations—either from mother inheritance or arising spontaneously—in the androgen receptor (AR) gene, located in ...
Diana Hristova, Radko Tocev, Krassimir Neykov, Ibryam Ibryam, Sergei Slavov, Smail Smail   +5 more
doaj   +1 more source

Improving sequence-based genotype calls with linkage disequilibrium and pedigree information

, 2012
Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases.
Whittemore, Alice S., Zhou, Baiyu
core   +1 more source

Mechanotransducing Organic Electrochemical Diode for Crosstalk‐Inhibited Artificial Skin

Advanced Functional Materials, EarlyView.
An innovative approach is presented to a stretchable mechanotransducing diode that unifies rectification and tactile‐sensing functionality. This approach enables to fabricate the diode that maintains a large rectification ratio (5 × 102) at a high operational frequency (100 Hz).
Taeyeong Kim, Seunggoo Baek, Garrett Lecroy, Hyeongseok Choi, Wonjeong Suh, Woosung Cho, Alberto Salleo, Unyong Jeong   +7 more
wiley   +1 more source

The Application of the Second Generation Non-Dominated Sorting Genetic Algorithm in Multi-Project Human Resource Scheduling Management

IEEE Access
With the development of the national economy, a large number of small and medium-sized enterprises have rapidly expanded in scale, and their internal structures have become increasingly complex. Traditional single project management is no longer suitable
Rui Zhao, Zhenhua Lei, Ziyu Zhao
doaj   +1 more source

Whole genome sequencing and microsatellite analysis of the Plasmodium falciparum E5 NF54 strain show that the var, rifin and stevor gene families follow Mendelian inheritance [PDF]

, 2018
Background: Plasmodium falciparum exhibits a high degree of inter-isolate genetic diversity in its variant surface antigen (VSA) families: P. falciparum erythrocyte membrane protein 1, repetitive interspersed family (RIFIN) and subtelomeric variable ...
Bruske, Ellen, Frank, Matthias, Otto, Thomas D.   +2 more
core   +5 more sources