Results 21 to 30 of about 37,179 (261)
broadinstitute/gatk-sv: v0.28.4-beta
, 2023 <h3>Updates include</h3> <p>SV discovery algorithms:</p> <ul> <li>Update manta to 1.6.0</li> <li>Optimize Scramble</li> </ul> <p>New functionality:</p> <ul> <li>Add PED ...
tedsharpe +16 more
core +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Using whole genome sequence to compare variant callers and breed differences of US sheep
Frontiers in Genetics, 2023 As whole genome sequence (WGS) data sets have become abundant and widely available, so has the need for variant detection and scoring. The aim of this study was to compare the accuracy of commonly used variant calling programs, Freebayes and GATK ...
Morgan R. Stegemiller +8 more
doaj +1 more source
Sapporo execution results - broadinstitute/gatk/MitochondriaPipeline
, 2022 See GitHub - sapporo-wes/test-workflow - #broadinstitute/gatk ...
Suetake, Hirotaka
core +1 more source
BMC Bioinformatics, 2021 Background Population genetic studies of humans make increasing use of high-throughput sequencing in order to capture diversity in an unbiased way.
Gwenna Breton +4 more
doaj +1 more source
biowdl/gatk-CNVcalling: Release 1.2.0
, 2021 Various stability fixes in ...
Cedrick Agaser
core +1 more source
GATK filtering results for the 96 arctic fox samples.
, 2021 Describes (per sample): the number of raw reads, reads passing GATK filters and those reads not passing the GATK filters due to mapping quality, secondary alignments, and duplicate reads. (XLSX)
Tristan M. Baecklund (10573715) +3 more
core +1 more source
Hepatology, 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
biowdl/gatk-CNVcalling: version 1.3.0
, 2023 Small updates to tasks for miniwdl ...
Davy Cats, Jasper Boom, Ruben Vorderman
core +1 more source
biowdl/gatk-CNVcalling: Release 1.1.0
, 2020 Update default GATK image to 4.1.8.0. Tasks were updated to contain the time_minutes runtime attribute and associated timeMinutes input, describing the maximum time the task will take to ...
Davy Cats, Ruben Vorderman
core +1 more source