Results 141 to 150 of about 710,573 (349)

Accelerating Pinned Insect Specimen Digitization: A Deep Learning Pipeline for Future Collaborative Robots

open access: yesAdvanced Intelligent Systems, EarlyView.
The study presents a prototype novel workflow that utilizes artificial intelligence for the digitization of natural history collections, which would fit within a robotic‐integrated system. The work focuses on a collaborative‐robot (cobot) inspired workflow to digitize one of the largest collections housed at the Natural History Museum UK: pinned ...
Naifeng Zhang   +4 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

Drosophila (Drosophila) immigrans STURTEVANT 1921

open access: yes, 2021
Drosophila (Drosophila) immigrans STURTEVANT, 1921 OÖ: Laussa, im Garten, 47.9495N / 14.4765E, 18.8.18. Bisher wenige Funde aus NÖ, oT und nT. Neu für Oberösterreich.
openaire   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips   +9 more
wiley   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala   +8 more
wiley   +1 more source

Paralog Explorer: A resource for mining information about paralogs in common research organisms

open access: yesComputational and Structural Biotechnology Journal, 2022
Paralogs are genes which arose via gene duplication, and when such paralogs retain overlapping or redundant function, this poses a challenge to functional genetics research.
Yanhui Hu   +5 more
doaj  

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