[HTML][HTML] Runs of homozygosity: windows into population history and trait architecture

FC Ceballos, PK Joshi, DW Clark, M Ramsay… - Nature Reviews …, 2018 - nature.com
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …

Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics

R Pereira, J Oliveira, M Sousa - Journal of clinical medicine, 2020 - mdpi.com
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

V Narasimhan, P Danecek, A Scally, Y Xue… - …, 2016 - academic.oup.com
Runs of homozygosity (RoHs) are genomic stretches of a diploid genome that show identical
alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are …

[HTML][HTML] Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

EM Scott, A Halees, Y Itan, EG Spencer, Y He… - Nature …, 2016 - nature.com
Abstract The Greater Middle East (GME) has been a central hub of human migration and
population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf …

[HTML][HTML] Variant PNLDC1, Defective piRNA Processing, and Azoospermia

L Nagirnaja, N Mørup, JE Nielsen… - … England Journal of …, 2021 - Mass Medical Soc
Background P-element–induced wimpy testis (PIWI)–interacting RNAs (piRNAs) are short
(21 to 35 nucleotides in length) and noncoding and are found almost exclusively in germ …

Iranome: a catalog of genomic variations in the Iranian population

Z Fattahi, M Beheshtian, M Mohseni… - Human …, 2019 - Wiley Online Library
Considering the application of human genome variation databases in precision medicine,
population‐specific genome projects are continuously being developed. However, the …

Diverse monogenic subforms of human spermatogenic failure

L Nagirnaja, AM Lopes, WL Charng, B Miller… - Nature …, 2022 - nature.com
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically
incurable. Defining the genetic basis of NOA has proven challenging, and the most …

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

M Quinodoz, VG Peter, N Bedoni… - Nature …, 2021 - nature.com
Homozygosity mapping is a powerful method for identifying mutations in patients with
recessive conditions, especially in consanguineous families or isolated populations …

Quantifying temporal genomic erosion in endangered species

D Díez-del-Molino, F Sánchez-Barreiro, I Barnes… - Trends in Ecology & …, 2018 - cell.com
Many species have undergone dramatic population size declines over the past centuries.
Although stochastic genetic processes during and after such declines are thought to elevate …

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

D Del Gaudio, M Shinawi, C Astbury, MK Tayeh… - Genetics in …, 2020 - nature.com
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …