Results 81 to 90 of about 34,751 (136)

Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes. [PDF]

Am J Hum Genet
Dhindsa RS, Weido BA, Dhindsa JS, Shetty AJ, Sands CF, Petrovski S, Vitsios D, Zoghbi AW.   +7 more
europepmc   +1 more source

Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families. [PDF]

Int J Mol Sci
Wawszczak-Kasza M, Rachuna J, Madej Ł, Lewitowicz W, Lewitowicz P, Horecka-Lewitowicz A.   +5 more
europepmc   +1 more source

OctopuSV and TentacleSV: a one-stop toolkit for multi-sample, cross-platform structural variant comparison and analysis. [PDF]

Bioinformatics
Guo Q, Li Y, Wang TY, Ramakrishnan A, Yang R.   +4 more
europepmc   +1 more source

ZebraMap: A Multimodal Rare Disease Knowledge Map with Automated Data Aggregation & LLM-Enriched Information Extraction Pipeline. [PDF]

Diagnostics (Basel)
Islam MS, Jamal A, Alkhathlan A.
europepmc   +1 more source

Selecting optimal software code descriptors-The case of Java. [PDF]

PLoS One
Bugayenko Y, Kholmatova Z, Kruglov A, Pedrycz W, Succi G.   +4 more
europepmc   +1 more source

Indel calling from ONT sequencing data of family trios via sparse attention and 3D convolution. [PDF]

Brief Bioinform
Shi Y, Wu C, Luo S, Zhang S, Wang W, Li J.   +5 more
europepmc   +1 more source

Overcoming limitations to customize DeepVariant for domesticated animals with TrioTrain. [PDF]

Genome Res
Kalleberg J, Rissman J, Schnabel RD.
europepmc   +1 more source

Integrative linkage and recombination analysis of 25 X-STRs across 7 linkage groups using pedigree-based and SNP-based strategies. [PDF]

Front Genet
Qian J, Qian X, Ji Q, Li Z, Shao C, Xu H, Yang F, Xie J.   +7 more
europepmc   +1 more source

Multimethodological and multiscale investigation of the therapeutic mechanism of Qian Ji Sheng Xue Pian in treating primary immune thrombocytopenia. [PDF]

Hereditas
Wang Y, Liu C, Sun X, Zhang W, Chen H, Zhu W.   +5 more
europepmc   +1 more source

The cucumber (Cucumis sativus L.) mitochondrial genome: intraspecific structural variation, repetitive architecture, and comparative evolutionary dynamics. [PDF]

BMC Plant Biol
You K, Kong J, Gu X, Nie L, Kan J, Wang J, Zhao Y, Zhang S, Tembrock LR, Lin S, Wang X, Jia M, Wu Z.   +12 more
europepmc   +1 more source