Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology.Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted.The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.
《人类遗传学》是一份月刊，出版关于人类遗传学各个方面的原创和及时的文章。该杂志特别欢迎在行为遗传学，生物信息学，癌症遗传学和基因组学，细胞遗传学，发育遗传学，疾病关联研究，形态异常学，ELSI领域的文章（伦理、法律的和社会问题）、进化遗传学、基因表达、基因结构和组织、复杂疾病遗传学和上位性相互作用、遗传流行病学、基因组生物学、基因组结构和组织、基因型-表型关系、人类基因组学、免疫遗传学和基因组学、连锁分析和遗传作图、统计遗传学方法、分子诊断学、突变检测和分析、神经遗传学、物理作图和群体遗传学。也欢迎报道与人类生物学或疾病相关的动物模型的文章。优先考虑那些解决临床相关问题或对人类生物学有新见解的文章，除非报道了某个主题的全新和不寻常的方面，临床病例报告、细胞遗传学病例报告、描述性群体遗传学的文章、涉及多态性频率或基因内额外突变的文章（其中已描述了许多病变）、报告对以前发表的数据集进行荟萃分析的论文通常不予接受。期刊一般不考虑发表仅报告未知功能基因的分离、图谱位置、结构和组织表达谱的稿件，除非该基因是特别感兴趣的基因或与人类特征或疾病有关的候选基因。
Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01970-5
Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity?
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02014-8
Missing heritability of complex diseases: case solved?
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02034-4
An update on the genetics of ocular coloboma
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02019-3
The genetic landscape of the human solute carrier (SLC) transporter superfamily
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02081-x
Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01988-9
LncRNA ZBTB40-IT1 modulated by osteoporosis GWAS risk SNPs suppresses osteogenesis
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01969-y
Long-read sequencing in deciphering human genetics to a greater depth
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02064-y
DNA damage in aging, the stem cell perspective
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02047-z
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02062-0
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01993-y
A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02022-8
OpenMendel: a cooperative programming project for statistical genetics
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02001-z
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02005-9
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02052-2
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01972-3
Fondness for sugars of enteric viruses confronts them with human glycans genetic diversity
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02090-w
Mind the gap: resources required to receive, process and interpret research-returned whole genome data
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02033-5
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02015-7
Correction to: Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity?
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02051-3
Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02083-9
A powerful fine-mapping method for transcriptome-wide association studies
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02098-2
Personalized medicine: going to the dogs?
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02020-w
Mutation signatures in germline mitochondrial genome provide insights into human mitochondrial evolution and disease
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02009-5
Arteriovenous malformation associated with a HRAS mutation
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02072-y
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02003-x
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02042-4
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01997-8
Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02025-5
Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01991-0
A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01986-x
Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02036-2
Genetic associations of breast and prostate cancer are enriched for regulatory elements identified in disease-related tissues
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02041-5
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02077-7
A different view on fine-scale population structure in Western African populations
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02069-7
Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02038-0
Expanded carrier screening: counseling and considerations
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02080-y
Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02032-6
Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02013-9
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02024-6
Exploring the interactions between the human and viral genomes
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02089-3
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02075-9
Author response to “a response to ‘personalised medicine and population health: breast and ovarian cancer’”
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01981-2
The Four Horsemen of the ‘Omicsalypse’: ontology, replicability, probability and epistemology
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02007-7
The rare 13q33–q34 microdeletions: eight new patients and review of the literature
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02048-y
Maternal genetic diseases: potential concerns for mother and baby
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02086-6
Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections
来源期刊：Human GeneticsDOI：10.1007/s00439-019-01992-z
Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02066-w
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02068-8
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation
来源期刊：Human GeneticsDOI：10.1007/s00439-019-02076-8
